Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.61740861G>ACA389928356HIF1A,HIF1A-AS3c.1766G>A (p.Ser589Asn)
c.1769G>A (p.Ser590Asn)
c.1838G>A (p.Ser613Asn)
n.674G>A
n.412G>A
c.1589G>A (p.Ser530Asn)
n.213+10024C>T
14g.61740861G>CCA389928358HIF1A,HIF1A-AS3c.1766G>C (p.Ser589Thr)
c.1769G>C (p.Ser590Thr)
c.1838G>C (p.Ser613Thr)
n.674G>C
n.412G>C
c.1589G>C (p.Ser530Thr)
n.213+10024C>G
 dbSNP
14g.61740861G=CA2141395976HIF1A,HIF1A-AS3c.1766G= (p.Ser589=)
c.1769G= (p.Ser590=)
c.1838G= (p.Ser613=)
n.674G=
n.412G=
c.1589G= (p.Ser530=)
n.213+10024C=
14g.61740861G>TCA389928359HIF1A,HIF1A-AS3c.1766G>T (p.Ser589Ile)
c.1769G>T (p.Ser590Ile)
c.1838G>T (p.Ser613Ile)
n.674G>T
n.412G>T
c.1589G>T (p.Ser530Ile)
n.213+10024C>A
14g.61740862C>ACA389928360HIF1A,HIF1A-AS3c.1767C>A (p.Ser589Arg)
c.1770C>A (p.Ser590Arg)
c.1839C>A (p.Ser613Arg)
n.675C>A
n.413C>A
c.1590C>A (p.Ser530Arg)
n.213+10023G>T
14g.61740862C>GCA389928362HIF1A,HIF1A-AS3c.1767C>G (p.Ser589Arg)
c.1770C>G (p.Ser590Arg)
c.1839C>G (p.Ser613Arg)
n.675C>G
n.413C>G
c.1590C>G (p.Ser530Arg)
n.213+10023G>C
14g.61740862C>TCA486957874HIF1A,HIF1A-AS3c.1767C>T (p.Ser589=)
c.1770C>T (p.Ser590=)
c.1839C>T (p.Ser613=)
n.675C>T
n.413C>T
c.1590C>T (p.Ser530=)
n.213+10023G>A
14g.61740863C>ACA389928367HIF1A,HIF1A-AS3c.1768C>A (p.Pro590Thr)
c.1771C>A (p.Pro591Thr)
c.1840C>A (p.Pro614Thr)
n.676C>A
n.414C>A
c.1591C>A (p.Pro531Thr)
n.213+10022G>T
14g.61740863C=CA2141395980HIF1A,HIF1A-AS3c.1768C= (p.Pro590=)
c.1771C= (p.Pro591=)
c.1840C= (p.Pro614=)
n.676C=
n.414C=
c.1591C= (p.Pro531=)
n.213+10022G=
14g.61740863C>GCA389928364HIF1A,HIF1A-AS3c.1768C>G (p.Pro590Ala)
c.1771C>G (p.Pro591Ala)
c.1840C>G (p.Pro614Ala)
n.676C>G
n.414C>G
c.1591C>G (p.Pro531Ala)
n.213+10022G>C
14g.61740863C>TCA389928366HIF1A,HIF1A-AS3c.1768C>T (p.Pro590Ser)
c.1771C>T (p.Pro591Ser)
c.1840C>T (p.Pro614Ser)
n.676C>T
n.414C>T
c.1591C>T (p.Pro531Ser)
n.213+10022G>A
 dbSNP gnomAD v4
14g.61740864C>ACA389928369HIF1A,HIF1A-AS3c.1769C>A (p.Pro590His)
c.1772C>A (p.Pro591His)
c.1841C>A (p.Pro614His)
n.677C>A
n.415C>A
c.1592C>A (p.Pro531His)
n.213+10021G>T
14g.61740864C>GCA389928371HIF1A,HIF1A-AS3c.1769C>G (p.Pro590Arg)
c.1772C>G (p.Pro591Arg)
c.1841C>G (p.Pro614Arg)
n.677C>G
n.415C>G
c.1592C>G (p.Pro531Arg)
n.213+10021G>C
14g.61740864C>TCA389928372HIF1A,HIF1A-AS3c.1769C>T (p.Pro590Leu)
c.1772C>T (p.Pro591Leu)
c.1841C>T (p.Pro614Leu)
n.677C>T
n.415C>T
c.1592C>T (p.Pro531Leu)
n.213+10021G>A
14g.61740865T>ACA486957878HIF1A,HIF1A-AS3c.1770T>A (p.Pro590=)
c.1773T>A (p.Pro591=)
c.1842T>A (p.Pro614=)
n.678T>A
n.416T>A
c.1593T>A (p.Pro531=)
n.213+10020A>T
14g.61740865T>CCA486957879HIF1A,HIF1A-AS3c.1770T>C (p.Pro590=)
c.1773T>C (p.Pro591=)
c.1842T>C (p.Pro614=)
n.678T>C
n.416T>C
c.1593T>C (p.Pro531=)
n.213+10020A>G
14g.61740865T>GCA486957880HIF1A,HIF1A-AS3c.1770T>G (p.Pro590=)
c.1773T>G (p.Pro591=)
c.1842T>G (p.Pro614=)
n.678T>G
n.416T>G
c.1593T>G (p.Pro531=)
n.213+10020A>C
14g.61740866G>ACA389928374HIF1A,HIF1A-AS3c.1771G>A (p.Glu591Lys)
c.1774G>A (p.Glu592Lys)
c.1843G>A (p.Glu615Lys)
n.679G>A
n.417G>A
c.1594G>A (p.Glu532Lys)
n.213+10019C>T
14g.61740866G>CCA389928376HIF1A,HIF1A-AS3c.1771G>C (p.Glu591Gln)
c.1774G>C (p.Glu592Gln)
c.1843G>C (p.Glu615Gln)
n.679G>C
n.417G>C
c.1594G>C (p.Glu532Gln)
n.213+10019C>G
 dbSNP
14g.61740866G=CA2141395989HIF1A,HIF1A-AS3c.1771G= (p.Glu591=)
c.1774G= (p.Glu592=)
c.1843G= (p.Glu615=)
n.679G=
n.417G=
c.1594G= (p.Glu532=)
n.213+10019C=
14g.61740866G>TCA389928377HIF1A,HIF1A-AS3c.1771G>T (p.Glu591Ter)
c.1774G>T (p.Glu592Ter)
c.1843G>T (p.Glu615Ter)
n.679G>T
n.417G>T
c.1594G>T (p.Glu532Ter)
n.213+10019C>A
14g.61740867A>CCA389928379HIF1A,HIF1A-AS3c.1772A>C (p.Glu591Ala)
c.1775A>C (p.Glu592Ala)
c.1844A>C (p.Glu615Ala)
n.680A>C
n.418A>C
c.1595A>C (p.Glu532Ala)
n.213+10018T>G
14g.61740867A>GCA389928380HIF1A,HIF1A-AS3c.1772A>G (p.Glu591Gly)
c.1775A>G (p.Glu592Gly)
c.1844A>G (p.Glu615Gly)
n.680A>G
n.418A>G
c.1595A>G (p.Glu532Gly)
n.213+10018T>C
14g.61740867A>TCA389928382HIF1A,HIF1A-AS3c.1772A>T (p.Glu591Val)
c.1775A>T (p.Glu592Val)
c.1844A>T (p.Glu615Val)
n.680A>T
n.418A>T
c.1595A>T (p.Glu532Val)
n.213+10018T>A
14g.61740868A>CCA389928384HIF1A,HIF1A-AS3c.1773A>C (p.Glu591Asp)
c.1776A>C (p.Glu592Asp)
c.1845A>C (p.Glu615Asp)
n.681A>C
n.419A>C
c.1596A>C (p.Glu532Asp)
n.213+10017T>G
14g.61740868A>GCA486957888HIF1A,HIF1A-AS3c.1773A>G (p.Glu591=)
c.1776A>G (p.Glu592=)
c.1845A>G (p.Glu615=)
n.681A>G
n.419A>G
c.1596A>G (p.Glu532=)
n.213+10017T>C
14g.61740868A>TCA389928385HIF1A,HIF1A-AS3c.1773A>T (p.Glu591Asp)
c.1776A>T (p.Glu592Asp)
c.1845A>T (p.Glu615Asp)
n.681A>T
n.419A>T
c.1596A>T (p.Glu532Asp)
n.213+10017T>A
14g.61740869A>CCA389928390HIF1A,HIF1A-AS3c.1774A>C (p.Ser592Arg)
c.1777A>C (p.Ser593Arg)
c.1846A>C (p.Ser616Arg)
n.682A>C
n.420A>C
c.1597A>C (p.Ser533Arg)
n.213+10016T>G
14g.61740869A>GCA389928388HIF1A,HIF1A-AS3c.1774A>G (p.Ser592Gly)
c.1777A>G (p.Ser593Gly)
c.1846A>G (p.Ser616Gly)
n.682A>G
n.420A>G
c.1597A>G (p.Ser533Gly)
n.213+10016T>C
 gnomAD v4
14g.61740869A>TCA389928387HIF1A,HIF1A-AS3c.1774A>T (p.Ser592Cys)
c.1777A>T (p.Ser593Cys)
c.1846A>T (p.Ser616Cys)
n.682A>T
n.420A>T
c.1597A>T (p.Ser533Cys)
n.213+10016T>A
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=

Number of alleles fetched