Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.61740870G>ACA389928392HIF1A,HIF1A-AS3c.1775G>A (p.Ser592Asn)
c.1778G>A (p.Ser593Asn)
c.1847G>A (p.Ser616Asn)
n.683G>A
n.421G>A
c.1598G>A (p.Ser533Asn)
n.213+10015C>T
14g.61740870G>CCA389928395HIF1A,HIF1A-AS3c.1775G>C (p.Ser592Thr)
c.1778G>C (p.Ser593Thr)
c.1847G>C (p.Ser616Thr)
n.683G>C
n.421G>C
c.1598G>C (p.Ser533Thr)
n.213+10015C>G
14g.61740870G>TCA389928393HIF1A,HIF1A-AS3c.1775G>T (p.Ser592Ile)
c.1778G>T (p.Ser593Ile)
c.1847G>T (p.Ser616Ile)
n.683G>T
n.421G>T
c.1598G>T (p.Ser533Ile)
n.213+10015C>A
14g.61740871C>ACA389928397HIF1A,HIF1A-AS3c.1776C>A (p.Ser592Arg)
c.1779C>A (p.Ser593Arg)
c.1848C>A (p.Ser616Arg)
n.684C>A
n.422C>A
c.1599C>A (p.Ser533Arg)
n.213+10014G>T
14g.61740871C=CA2141395993HIF1A,HIF1A-AS3c.1776C= (p.Ser592=)
c.1779C= (p.Ser593=)
c.1848C= (p.Ser616=)
n.684C=
n.422C=
c.1599C= (p.Ser533=)
n.213+10014G=
14g.61740871C>GCA389928399HIF1A,HIF1A-AS3c.1776C>G (p.Ser592Arg)
c.1779C>G (p.Ser593Arg)
c.1848C>G (p.Ser616Arg)
n.684C>G
n.422C>G
c.1599C>G (p.Ser533Arg)
n.213+10014G>C
14g.61740871C>TCA7216008HIF1A,HIF1A-AS3c.1776C>T (p.Ser592=)
c.1779C>T (p.Ser593=)
c.1848C>T (p.Ser616=)
n.684C>T
n.422C>T
c.1599C>T (p.Ser533=)
n.213+10014G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61740871_61740874dupCA2575545762HIF1A,HIF1A-AS3c.1776_1779dup (p.Ser594ArgfsTer21)
c.1779_1782dup (p.Ser595ArgfsTer21)
c.1848_1851dup (p.Ser618ArgfsTer21)
n.684_687dup
n.422_425dup
c.1599_1602dup (p.Ser535ArgfsTer21)
n.213+10011_213+10014dup
14g.61740872G>ACA7216010HIF1A,HIF1A-AS3c.1777G>A (p.Ala593Thr)
c.1780G>A (p.Ala594Thr)
c.1849G>A (p.Ala617Thr)
n.685G>A
n.423G>A
c.1600G>A (p.Ala534Thr)
n.213+10013C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
14g.61740872G>CCA7216009HIF1A,HIF1A-AS3c.1777G>C (p.Ala593Pro)
c.1780G>C (p.Ala594Pro)
c.1849G>C (p.Ala617Pro)
n.685G>C
n.423G>C
c.1600G>C (p.Ala534Pro)
n.213+10013C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.61740872G=CA2141395996HIF1A,HIF1A-AS3c.1777G= (p.Ala593=)
c.1780G= (p.Ala594=)
c.1849G= (p.Ala617=)
n.685G=
n.423G=
c.1600G= (p.Ala534=)
n.213+10013C=
14g.61740872G>TCA389928401HIF1A,HIF1A-AS3c.1777G>T (p.Ala593Ser)
c.1780G>T (p.Ala594Ser)
c.1849G>T (p.Ala617Ser)
n.685G>T
n.423G>T
c.1600G>T (p.Ala534Ser)
n.213+10013C>A
14g.61740873C>ACA389928403HIF1A,HIF1A-AS3c.1778C>A (p.Ala593Glu)
c.1781C>A (p.Ala594Glu)
c.1850C>A (p.Ala617Glu)
n.686C>A
n.424C>A
c.1601C>A (p.Ala534Glu)
n.213+10012G>T
14g.61740873C>GCA389928405HIF1A,HIF1A-AS3c.1778C>G (p.Ala593Gly)
c.1781C>G (p.Ala594Gly)
c.1850C>G (p.Ala617Gly)
n.686C>G
n.424C>G
c.1601C>G (p.Ala534Gly)
n.213+10012G>C
14g.61740873C>TCA389928406HIF1A,HIF1A-AS3c.1778C>T (p.Ala593Val)
c.1781C>T (p.Ala594Val)
c.1850C>T (p.Ala617Val)
n.686C>T
n.424C>T
c.1601C>T (p.Ala534Val)
n.213+10012G>A
 gnomAD v4
14g.61740874A=CA2141396001HIF1A,HIF1A-AS3c.1779A= (p.Ala593=)
c.1782A= (p.Ala594=)
c.1851A= (p.Ala617=)
n.687A=
n.425A=
c.1602A= (p.Ala534=)
n.213+10011T=
14g.61740874A>CCA486957896HIF1A,HIF1A-AS3c.1779A>C (p.Ala593=)
c.1782A>C (p.Ala594=)
c.1851A>C (p.Ala617=)
n.687A>C
n.425A>C
c.1602A>C (p.Ala534=)
n.213+10011T>G
14g.61740874A>GCA261777784HIF1A,HIF1A-AS3c.1779A>G (p.Ala593=)
c.1782A>G (p.Ala594=)
c.1851A>G (p.Ala617=)
n.687A>G
n.425A>G
c.1602A>G (p.Ala534=)
n.213+10011T>C
 dbSNP
14g.61740874A>TCA486957897HIF1A,HIF1A-AS3c.1779A>T (p.Ala593=)
c.1782A>T (p.Ala594=)
c.1851A>T (p.Ala617=)
n.687A>T
n.425A>T
c.1602A>T (p.Ala534=)
n.213+10011T>A
14g.61740875A=CA2141396003HIF1A,HIF1A-AS3c.1780A= (p.Ser594=)
c.1783A= (p.Ser595=)
c.1852A= (p.Ser618=)
n.688A=
n.426A=
c.1603A= (p.Ser535=)
n.213+10010T=
14g.61740875A>CCA389928408HIF1A,HIF1A-AS3c.1780A>C (p.Ser594Arg)
c.1783A>C (p.Ser595Arg)
c.1852A>C (p.Ser618Arg)
n.688A>C
n.426A>C
c.1603A>C (p.Ser535Arg)
n.213+10010T>G
 dbSNP gnomAD v3 gnomAD v4
14g.61740875A>GCA261777793HIF1A,HIF1A-AS3c.1780A>G (p.Ser594Gly)
c.1783A>G (p.Ser595Gly)
c.1852A>G (p.Ser618Gly)
n.688A>G
n.426A>G
c.1603A>G (p.Ser535Gly)
n.213+10010T>C
 dbSNP
14g.61740875A>TCA389928409HIF1A,HIF1A-AS3c.1780A>T (p.Ser594Cys)
c.1783A>T (p.Ser595Cys)
c.1852A>T (p.Ser618Cys)
n.688A>T
n.426A>T
c.1603A>T (p.Ser535Cys)
n.213+10010T>A
14g.61740876G>ACA389928415HIF1A,HIF1A-AS3c.1781G>A (p.Ser594Asn)
c.1784G>A (p.Ser595Asn)
c.1853G>A (p.Ser618Asn)
n.689G>A
n.427G>A
c.1604G>A (p.Ser535Asn)
n.213+10009C>T
 gnomAD v4
14g.61740876G>CCA389928411HIF1A,HIF1A-AS3c.1781G>C (p.Ser594Thr)
c.1784G>C (p.Ser595Thr)
c.1853G>C (p.Ser618Thr)
n.689G>C
n.427G>C
c.1604G>C (p.Ser535Thr)
n.213+10009C>G
14g.61740876G>TCA389928413HIF1A,HIF1A-AS3c.1781G>T (p.Ser594Ile)
c.1784G>T (p.Ser595Ile)
c.1853G>T (p.Ser618Ile)
n.689G>T
n.427G>T
c.1604G>T (p.Ser535Ile)
n.213+10009C>A
14g.61740877T>ACA389928416HIF1A,HIF1A-AS3c.1782T>A (p.Ser594Arg)
c.1785T>A (p.Ser595Arg)
c.1854T>A (p.Ser618Arg)
n.690T>A
n.428T>A
c.1605T>A (p.Ser535Arg)
n.213+10008A>T
14g.61740877T>CCA486957903HIF1A,HIF1A-AS3c.1782T>C (p.Ser594=)
c.1785T>C (p.Ser595=)
c.1854T>C (p.Ser618=)
n.690T>C
n.428T>C
c.1605T>C (p.Ser535=)
n.213+10008A>G
14g.61740877T>GCA389928417HIF1A,HIF1A-AS3c.1782T>G (p.Ser594Arg)
c.1785T>G (p.Ser595Arg)
c.1854T>G (p.Ser618Arg)
n.690T>G
n.428T>G
c.1605T>G (p.Ser535Arg)
n.213+10008A>C
14g.61740878C>ACA389928419HIF1A,HIF1A-AS3c.1783C>A (p.Pro595Thr)
c.1786C>A (p.Pro596Thr)
c.1855C>A (p.Pro619Thr)
n.691C>A
n.429C>A
c.1606C>A (p.Pro536Thr)
n.213+10007G>T
14g.61740878C>GCA389928421HIF1A,HIF1A-AS3c.1783C>G (p.Pro595Ala)
c.1786C>G (p.Pro596Ala)
c.1855C>G (p.Pro619Ala)
n.691C>G
n.429C>G
c.1606C>G (p.Pro536Ala)
n.213+10007G>C
 gnomAD v4
14g.61740878C>TCA389928423HIF1A,HIF1A-AS3c.1783C>T (p.Pro595Ser)
c.1786C>T (p.Pro596Ser)
c.1855C>T (p.Pro619Ser)
n.691C>T
n.429C>T
c.1606C>T (p.Pro536Ser)
n.213+10007G>A
14g.61740879C>ACA389928424HIF1A,HIF1A-AS3c.1784C>A (p.Pro595His)
c.1787C>A (p.Pro596His)
c.1856C>A (p.Pro619His)
n.692C>A
n.430C>A
c.1607C>A (p.Pro536His)
n.213+10006G>T
14g.61740879C>GCA389928425HIF1A,HIF1A-AS3c.1784C>G (p.Pro595Arg)
c.1787C>G (p.Pro596Arg)
c.1856C>G (p.Pro619Arg)
n.692C>G
n.430C>G
c.1607C>G (p.Pro536Arg)
n.213+10006G>C
14g.61740879C>TCA389928426HIF1A,HIF1A-AS3c.1784C>T (p.Pro595Leu)
c.1787C>T (p.Pro596Leu)
c.1856C>T (p.Pro619Leu)
n.692C>T
n.430C>T
c.1607C>T (p.Pro536Leu)
n.213+10006G>A
14g.61740880T>ACA486957910HIF1A,HIF1A-AS3c.1785T>A (p.Pro595=)
c.1788T>A (p.Pro596=)
c.1857T>A (p.Pro619=)
n.693T>A
n.431T>A
c.1608T>A (p.Pro536=)
n.213+10005A>T
14g.61740880T>CCA486957912HIF1A,HIF1A-AS3c.1785T>C (p.Pro595=)
c.1788T>C (p.Pro596=)
c.1857T>C (p.Pro619=)
n.693T>C
n.431T>C
c.1608T>C (p.Pro536=)
n.213+10005A>G
 gnomAD v4
14g.61740880T>GCA486957914HIF1A,HIF1A-AS3c.1785T>G (p.Pro595=)
c.1788T>G (p.Pro596=)
c.1857T>G (p.Pro619=)
n.693T>G
n.431T>G
c.1608T>G (p.Pro536=)
n.213+10005A>C
14g.61740881C>ACA389928428HIF1A,HIF1A-AS3c.1786C>A (p.Gln596Lys)
c.1789C>A (p.Gln597Lys)
c.1858C>A (p.Gln620Lys)
n.694C>A
n.432C>A
c.1609C>A (p.Gln537Lys)
n.213+10004G>T
14g.61740881C=CA2141396009HIF1A,HIF1A-AS3c.1786C= (p.Gln596=)
c.1789C= (p.Gln597=)
c.1858C= (p.Gln620=)
n.694C=
n.432C=
c.1609C= (p.Gln537=)
n.213+10004G=
14g.61740881C>GCA389928429HIF1A,HIF1A-AS3c.1786C>G (p.Gln596Glu)
c.1789C>G (p.Gln597Glu)
c.1858C>G (p.Gln620Glu)
n.694C>G
n.432C>G
c.1609C>G (p.Gln537Glu)
n.213+10004G>C
 dbSNP gnomAD v2 gnomAD v4
14g.61740881C>TCA389928431HIF1A,HIF1A-AS3c.1786C>T (p.Gln596Ter)
c.1789C>T (p.Gln597Ter)
c.1858C>T (p.Gln620Ter)
n.694C>T
n.432C>T
c.1609C>T (p.Gln537Ter)
n.213+10004G>A
14g.61740882A>CCA389928435HIF1A,HIF1A-AS3c.1787A>C (p.Gln596Pro)
c.1790A>C (p.Gln597Pro)
c.1859A>C (p.Gln620Pro)
n.695A>C
n.433A>C
c.1610A>C (p.Gln537Pro)
n.213+10003T>G
14g.61740882A>GCA389928433HIF1A,HIF1A-AS3c.1787A>G (p.Gln596Arg)
c.1790A>G (p.Gln597Arg)
c.1859A>G (p.Gln620Arg)
n.695A>G
n.433A>G
c.1610A>G (p.Gln537Arg)
n.213+10003T>C
14g.61740882A>TCA389928432HIF1A,HIF1A-AS3c.1787A>T (p.Gln596Leu)
c.1790A>T (p.Gln597Leu)
c.1859A>T (p.Gln620Leu)
n.695A>T
n.433A>T
c.1610A>T (p.Gln537Leu)
n.213+10003T>A
14g.61740883A=CA2141396014HIF1A,HIF1A-AS3c.1788A= (p.Gln596=)
c.1791A= (p.Gln597=)
c.1860A= (p.Gln620=)
n.696A=
n.434A=
c.1611A= (p.Gln537=)
n.213+10002T=
14g.61740883A>CCA389928438HIF1A,HIF1A-AS3c.1788A>C (p.Gln596His)
c.1791A>C (p.Gln597His)
c.1860A>C (p.Gln620His)
n.696A>C
n.434A>C
c.1611A>C (p.Gln537His)
n.213+10002T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.61740883A>GCA486957920HIF1A,HIF1A-AS3c.1788A>G (p.Gln596=)
c.1791A>G (p.Gln597=)
c.1860A>G (p.Gln620=)
n.696A>G
n.434A>G
c.1611A>G (p.Gln537=)
n.213+10002T>C
14g.61740883A>TCA389928436HIF1A,HIF1A-AS3c.1788A>T (p.Gln596His)
c.1791A>T (p.Gln597His)
c.1860A>T (p.Gln620His)
n.696A>T
n.434A>T
c.1611A>T (p.Gln537His)
n.213+10002T>A
14g.61740884A>CCA389928440HIF1A,HIF1A-AS3c.1789A>C (p.Ser597Arg)
c.1792A>C (p.Ser598Arg)
c.1861A>C (p.Ser621Arg)
n.697A>C
n.435A>C
c.1612A>C (p.Ser538Arg)
n.213+10001T>G

Number of alleles fetched