Canonical Allele Identifier: CA486957765
Gene: HIF1A HGNC NCBI
HIF1A-AS3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.62207484A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61740766A>G , CM000676.2:g.61740766A>G GRCh38
NC_000014.8:g.62207484A>G , CM000676.1:g.62207484A>G GRCh37
NC_000014.7:g.61277237A>G NCBI36
NG_029606.1:g.50366A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337138.9:c.1671A>G (HIF1A) MANE Select ENSP00000338018.4:p.Leu557=
ENST00000323441.10:c.1671A>G (HIF1A) ENSP00000323326.6:p.Leu557=
ENST00000337138.8:c.1671A>G (HIF1A) ENSP00000338018.4:p.Leu557=
ENST00000394997.5:c.1674A>G (HIF1A) ENSP00000378446.1:p.Leu558=
ENST00000539097.2:c.1743A>G (HIF1A) ENSP00000437955.1:p.Leu581=
ENST00000547430.2:n.579A>G (HIF1A)
ENST00000555014.1:n.317A>G (HIF1A)
ENST00000557538.5:c.1494A>G (HIF1A) ENSP00000451696.1:p.Leu498=
NM_001243084.1:c.1743A>G (HIF1A) NP_001230013.1:p.Leu581=
NM_001530.3:c.1671A>G (HIF1A) NP_001521.1:p.Leu557=
NM_181054.2:c.1671A>G (HIF1A) NP_851397.1:p.Leu557=
XR_943925.1:n.213+10119T>C (HIF1A-AS3)
XR_943926.1:n.213+10119T>C (HIF1A-AS3)
XR_943927.1:n.213+10119T>C (HIF1A-AS3)
XR_943928.1:n.213+10119T>C (HIF1A-AS3)
XR_943929.1:n.213+10119T>C (HIF1A-AS3)
NR_144368.1:n.213+10119T>C (HIF1A-AS3)
NM_001530.4:c.1671A>G (HIF1A) MANE Select NP_001521.1:p.Leu557=
NM_181054.3:c.1671A>G (HIF1A) NP_851397.1:p.Leu557=
NM_001243084.2:c.1743A>G (HIF1A) NP_001230013.1:p.Leu581=