Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.61740771T>ACA389928018HIF1A,HIF1A-AS3c.1676T>A (p.Leu559Ter)
c.1679T>A (p.Leu560Ter)
c.1748T>A (p.Leu583Ter)
n.584T>A
n.322T>A
c.1499T>A (p.Leu500Ter)
n.213+10114A>T
14g.61740771T>CCA389928020HIF1A,HIF1A-AS3c.1676T>C (p.Leu559Ser)
c.1679T>C (p.Leu560Ser)
c.1748T>C (p.Leu583Ser)
n.584T>C
n.322T>C
c.1499T>C (p.Leu500Ser)
n.213+10114A>G
14g.61740771T>GCA389928022HIF1A,HIF1A-AS3c.1676T>G (p.Leu559Trp)
c.1679T>G (p.Leu560Trp)
c.1748T>G (p.Leu583Trp)
n.584T>G
n.322T>G
c.1499T>G (p.Leu500Trp)
n.213+10114A>C
14g.61740772G>ACA486957770HIF1A,HIF1A-AS3c.1677G>A (p.Leu559=)
c.1680G>A (p.Leu560=)
c.1749G>A (p.Leu583=)
n.585G>A
n.323G>A
c.1500G>A (p.Leu500=)
n.213+10113C>T
14g.61740772G>CCA389928023HIF1A,HIF1A-AS3c.1677G>C (p.Leu559Phe)
c.1680G>C (p.Leu560Phe)
c.1749G>C (p.Leu583Phe)
n.585G>C
n.323G>C
c.1500G>C (p.Leu500Phe)
n.213+10113C>G
14g.61740772G>TCA389928025HIF1A,HIF1A-AS3c.1677G>T (p.Leu559Phe)
c.1680G>T (p.Leu560Phe)
c.1749G>T (p.Leu583Phe)
n.585G>T
n.323G>T
c.1500G>T (p.Leu500Phe)
n.213+10113C>A
14g.61740773G>ACA389928027HIF1A,HIF1A-AS3c.1678G>A (p.Glu560Lys)
c.1681G>A (p.Glu561Lys)
c.1750G>A (p.Glu584Lys)
n.586G>A
n.324G>A
c.1501G>A (p.Glu501Lys)
n.213+10112C>T
14g.61740773G>CCA389928028HIF1A,HIF1A-AS3c.1678G>C (p.Glu560Gln)
c.1681G>C (p.Glu561Gln)
c.1750G>C (p.Glu584Gln)
n.586G>C
n.324G>C
c.1501G>C (p.Glu501Gln)
n.213+10112C>G
14g.61740773G>TCA389928030HIF1A,HIF1A-AS3c.1678G>T (p.Glu560Ter)
c.1681G>T (p.Glu561Ter)
c.1750G>T (p.Glu584Ter)
n.586G>T
n.324G>T
c.1501G>T (p.Glu501Ter)
n.213+10112C>A
14g.61740774A>CCA389928035HIF1A,HIF1A-AS3c.1679A>C (p.Glu560Ala)
c.1682A>C (p.Glu561Ala)
c.1751A>C (p.Glu584Ala)
n.587A>C
n.325A>C
c.1502A>C (p.Glu501Ala)
n.213+10111T>G
14g.61740774A>GCA389928032HIF1A,HIF1A-AS3c.1679A>G (p.Glu560Gly)
c.1682A>G (p.Glu561Gly)
c.1751A>G (p.Glu584Gly)
n.587A>G
n.325A>G
c.1502A>G (p.Glu501Gly)
n.213+10111T>C
14g.61740774A>TCA389928034HIF1A,HIF1A-AS3c.1679A>T (p.Glu560Val)
c.1682A>T (p.Glu561Val)
c.1751A>T (p.Glu584Val)
n.587A>T
n.325A>T
c.1502A>T (p.Glu501Val)
n.213+10111T>A
14g.61740775G>ACA7215992HIF1A,HIF1A-AS3c.1680G>A (p.Glu560=)
c.1683G>A (p.Glu561=)
c.1752G>A (p.Glu584=)
n.588G>A
n.326G>A
c.1503G>A (p.Glu501=)
n.213+10110C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61740775G>CCA389928038HIF1A,HIF1A-AS3c.1680G>C (p.Glu560Asp)
c.1683G>C (p.Glu561Asp)
c.1752G>C (p.Glu584Asp)
n.588G>C
n.326G>C
c.1503G>C (p.Glu501Asp)
n.213+10110C>G
14g.61740775G=CA2141395850HIF1A,HIF1A-AS3c.1680G= (p.Glu560=)
c.1683G= (p.Glu561=)
c.1752G= (p.Glu584=)
n.588G=
n.326G=
c.1503G= (p.Glu501=)
n.213+10110C=
14g.61740775G>TCA389928039HIF1A,HIF1A-AS3c.1680G>T (p.Glu560Asp)
c.1683G>T (p.Glu561Asp)
c.1752G>T (p.Glu584Asp)
n.588G>T
n.326G>T
c.1503G>T (p.Glu501Asp)
n.213+10110C>A
 COSMIC COSMIC
14g.61740776A=CA2141395853HIF1A,HIF1A-AS3c.1681A= (p.Met561=)
c.1684A= (p.Met562=)
c.1753A= (p.Met585=)
n.589A=
n.327A=
c.1504A= (p.Met502=)
n.213+10109T=
14g.61740776A>CCA389928041HIF1A,HIF1A-AS3c.1681A>C (p.Met561Leu)
c.1684A>C (p.Met562Leu)
c.1753A>C (p.Met585Leu)
n.589A>C
n.327A>C
c.1504A>C (p.Met502Leu)
n.213+10109T>G
14g.61740776A>GCA389928042HIF1A,HIF1A-AS3c.1681A>G (p.Met561Val)
c.1684A>G (p.Met562Val)
c.1753A>G (p.Met585Val)
n.589A>G
n.327A>G
c.1504A>G (p.Met502Val)
n.213+10109T>C
14g.61740776A>TCA389928043HIF1A,HIF1A-AS3c.1681A>T (p.Met561Leu)
c.1684A>T (p.Met562Leu)
c.1753A>T (p.Met585Leu)
n.589A>T
n.327A>T
c.1504A>T (p.Met502Leu)
n.213+10109T>A
 dbSNP gnomAD v3 gnomAD v4
14g.61740777T>ACA389928045HIF1A,HIF1A-AS3c.1682T>A (p.Met561Lys)
c.1685T>A (p.Met562Lys)
c.1754T>A (p.Met585Lys)
n.590T>A
n.328T>A
c.1505T>A (p.Met502Lys)
n.213+10108A>T
14g.61740777T>CCA389928046HIF1A,HIF1A-AS3c.1682T>C (p.Met561Thr)
c.1685T>C (p.Met562Thr)
c.1754T>C (p.Met585Thr)
n.590T>C
n.328T>C
c.1505T>C (p.Met502Thr)
n.213+10108A>G
14g.61740777T>GCA389928048HIF1A,HIF1A-AS3c.1682T>G (p.Met561Arg)
c.1685T>G (p.Met562Arg)
c.1754T>G (p.Met585Arg)
n.590T>G
n.328T>G
c.1505T>G (p.Met502Arg)
n.213+10108A>C
14g.61740778G>ACA389928050HIF1A,HIF1A-AS3c.1683G>A (p.Met561Ile)
c.1686G>A (p.Met562Ile)
c.1755G>A (p.Met585Ile)
n.591G>A
n.329G>A
c.1506G>A (p.Met502Ile)
n.213+10107C>T
 dbSNP gnomAD v2 gnomAD v4
14g.61740778G>CCA389928051HIF1A,HIF1A-AS3c.1683G>C (p.Met561Ile)
c.1686G>C (p.Met562Ile)
c.1755G>C (p.Met585Ile)
n.591G>C
n.329G>C
c.1506G>C (p.Met502Ile)
n.213+10107C>G
14g.61740778G=CA2141395856HIF1A,HIF1A-AS3c.1683G= (p.Met561=)
c.1686G= (p.Met562=)
c.1755G= (p.Met585=)
n.591G=
n.329G=
c.1506G= (p.Met502=)
n.213+10107C=
14g.61740778G>TCA389928052HIF1A,HIF1A-AS3c.1683G>T (p.Met561Ile)
c.1686G>T (p.Met562Ile)
c.1755G>T (p.Met585Ile)
n.591G>T
n.329G>T
c.1506G>T (p.Met502Ile)
n.213+10107C>A
14g.61740779T>ACA389928054HIF1A,HIF1A-AS3c.1684T>A (p.Leu562Ile)
c.1687T>A (p.Leu563Ile)
c.1756T>A (p.Leu586Ile)
n.592T>A
n.330T>A
c.1507T>A (p.Leu503Ile)
n.213+10106A>T
14g.61740779T>CCA486957778HIF1A,HIF1A-AS3c.1684T>C (p.Leu562=)
c.1687T>C (p.Leu563=)
c.1756T>C (p.Leu586=)
n.592T>C
n.330T>C
c.1507T>C (p.Leu503=)
n.213+10106A>G
14g.61740779T>GCA389928056HIF1A,HIF1A-AS3c.1684T>G (p.Leu562Val)
c.1687T>G (p.Leu563Val)
c.1756T>G (p.Leu586Val)
n.592T>G
n.330T>G
c.1507T>G (p.Leu503Val)
n.213+10106A>C
14g.61740780T>ACA389928058HIF1A,HIF1A-AS3c.1685T>A (p.Leu562Ter)
c.1688T>A (p.Leu563Ter)
c.1757T>A (p.Leu586Ter)
n.593T>A
n.331T>A
c.1508T>A (p.Leu503Ter)
n.213+10105A>T
14g.61740780T>CCA389928062HIF1A,HIF1A-AS3c.1685T>C (p.Leu562Ser)
c.1688T>C (p.Leu563Ser)
c.1757T>C (p.Leu586Ser)
n.593T>C
n.331T>C
c.1508T>C (p.Leu503Ser)
n.213+10105A>G
14g.61740780T>GCA389928060HIF1A,HIF1A-AS3c.1685T>G (p.Leu562Ter)
c.1688T>G (p.Leu563Ter)
c.1757T>G (p.Leu586Ter)
n.593T>G
n.331T>G
c.1508T>G (p.Leu503Ter)
n.213+10105A>C
14g.61740781A>CCA389928063HIF1A,HIF1A-AS3c.1686A>C (p.Leu562Phe)
c.1689A>C (p.Leu563Phe)
c.1758A>C (p.Leu586Phe)
n.594A>C
n.332A>C
c.1509A>C (p.Leu503Phe)
n.213+10104T>G
14g.61740781A>GCA486957781HIF1A,HIF1A-AS3c.1686A>G (p.Leu562=)
c.1689A>G (p.Leu563=)
c.1758A>G (p.Leu586=)
n.594A>G
n.332A>G
c.1509A>G (p.Leu503=)
n.213+10104T>C
14g.61740781A>TCA389928065HIF1A,HIF1A-AS3c.1686A>T (p.Leu562Phe)
c.1689A>T (p.Leu563Phe)
c.1758A>T (p.Leu586Phe)
n.594A>T
n.332A>T
c.1509A>T (p.Leu503Phe)
n.213+10104T>A
14g.61740782G>ACA389928067HIF1A,HIF1A-AS3c.1687G>A (p.Ala563Thr)
c.1690G>A (p.Ala564Thr)
c.1759G>A (p.Ala587Thr)
n.595G>A
n.333G>A
c.1510G>A (p.Ala504Thr)
n.213+10103C>T
14g.61740782G>CCA389928069HIF1A,HIF1A-AS3c.1687G>C (p.Ala563Pro)
c.1690G>C (p.Ala564Pro)
c.1759G>C (p.Ala587Pro)
n.595G>C
n.333G>C
c.1510G>C (p.Ala504Pro)
n.213+10103C>G
14g.61740782G>TCA389928070HIF1A,HIF1A-AS3c.1687G>T (p.Ala563Ser)
c.1690G>T (p.Ala564Ser)
c.1759G>T (p.Ala587Ser)
n.595G>T
n.333G>T
c.1510G>T (p.Ala504Ser)
n.213+10103C>A
14g.61740783C>ACA389928072HIF1A,HIF1A-AS3c.1688C>A (p.Ala563Asp)
c.1691C>A (p.Ala564Asp)
c.1760C>A (p.Ala587Asp)
n.596C>A
n.334C>A
c.1511C>A (p.Ala504Asp)
n.213+10102G>T
14g.61740783C>GCA389928074HIF1A,HIF1A-AS3c.1688C>G (p.Ala563Gly)
c.1691C>G (p.Ala564Gly)
c.1760C>G (p.Ala587Gly)
n.596C>G
n.334C>G
c.1511C>G (p.Ala504Gly)
n.213+10102G>C
14g.61740783C>TCA389928075HIF1A,HIF1A-AS3c.1688C>T (p.Ala563Val)
c.1691C>T (p.Ala564Val)
c.1760C>T (p.Ala587Val)
n.596C>T
n.334C>T
c.1511C>T (p.Ala504Val)
n.213+10102G>A
 gnomAD v4
14g.61740784T>ACA486957784HIF1A,HIF1A-AS3c.1689T>A (p.Ala563=)
c.1692T>A (p.Ala564=)
c.1761T>A (p.Ala587=)
n.597T>A
n.335T>A
c.1512T>A (p.Ala504=)
n.213+10101A>T
14g.61740784T>CCA486957788HIF1A,HIF1A-AS3c.1689T>C (p.Ala563=)
c.1692T>C (p.Ala564=)
c.1761T>C (p.Ala587=)
n.597T>C
n.335T>C
c.1512T>C (p.Ala504=)
n.213+10101A>G
14g.61740784T>GCA486957786HIF1A,HIF1A-AS3c.1689T>G (p.Ala563=)
c.1692T>G (p.Ala564=)
c.1761T>G (p.Ala587=)
n.597T>G
n.335T>G
c.1512T>G (p.Ala504=)
n.213+10101A>C
14g.61740785C>ACA389928077HIF1A,HIF1A-AS3c.1690C>A (p.Pro564Thr)
c.1693C>A (p.Pro565Thr)
c.1762C>A (p.Pro588Thr)
n.598C>A
n.336C>A
c.1513C>A (p.Pro505Thr)
n.213+10100G>T
14g.61740785C>GCA389928078HIF1A,HIF1A-AS3c.1690C>G (p.Pro564Ala)
c.1693C>G (p.Pro565Ala)
c.1762C>G (p.Pro588Ala)
n.598C>G
n.336C>G
c.1513C>G (p.Pro505Ala)
n.213+10100G>C
 COSMIC
14g.61740785C>TCA389928080HIF1A,HIF1A-AS3c.1690C>T (p.Pro564Ser)
c.1693C>T (p.Pro565Ser)
c.1762C>T (p.Pro588Ser)
n.598C>T
n.336C>T
c.1513C>T (p.Pro505Ser)
n.213+10100G>A
14g.61740786C>ACA389928083HIF1A,HIF1A-AS3c.1691C>A (p.Pro564His)
c.1694C>A (p.Pro565His)
c.1763C>A (p.Pro588His)
n.599C>A
n.337C>A
c.1514C>A (p.Pro505His)
n.213+10099G>T
14g.61740786C>GCA389928082HIF1A,HIF1A-AS3c.1691C>G (p.Pro564Arg)
c.1694C>G (p.Pro565Arg)
c.1763C>G (p.Pro588Arg)
n.599C>G
n.337C>G
c.1514C>G (p.Pro505Arg)
n.213+10099G>C

Number of alleles fetched