Canonical Allele Identifier: CA486957870

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1451710715
• gnomAD v2: 14-62207577-A-G
• MyVariant Identifiers: chr14:g.62207577A>G (hg19) ; chr14:g.61740859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740859A>G , CM000676.2:g.61740859A>G	GRCh38
NC_000014.8:g.62207577A>G , CM000676.1:g.62207577A>G	GRCh37
NC_000014.7:g.61277330A>G	NCBI36
NG_029606.1:g.50459A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.1764A>G (HIF1A) MANE Select	ENSP00000338018.4:p.Ala588=
ENST00000323441.10:c.1764A>G (HIF1A)	ENSP00000323326.6:p.Ala588=
ENST00000337138.8:c.1764A>G (HIF1A)	ENSP00000338018.4:p.Ala588=
ENST00000394997.5:c.1767A>G (HIF1A)	ENSP00000378446.1:p.Ala589=
ENST00000539097.2:c.1836A>G (HIF1A)	ENSP00000437955.1:p.Ala612=
ENST00000547430.2:n.672A>G (HIF1A)
ENST00000555014.1:n.410A>G (HIF1A)
ENST00000557538.5:c.1587A>G (HIF1A)	ENSP00000451696.1:p.Ala529=
NM_001243084.1:c.1836A>G (HIF1A)	NP_001230013.1:p.Ala612=
NM_001530.3:c.1764A>G (HIF1A)	NP_001521.1:p.Ala588=
NM_181054.2:c.1764A>G (HIF1A)	NP_851397.1:p.Ala588=
XR_943925.1:n.213+10026T>C (HIF1A-AS3)
XR_943926.1:n.213+10026T>C (HIF1A-AS3)
XR_943927.1:n.213+10026T>C (HIF1A-AS3)
XR_943928.1:n.213+10026T>C (HIF1A-AS3)
XR_943929.1:n.213+10026T>C (HIF1A-AS3)
NR_144368.1:n.213+10026T>C (HIF1A-AS3)
NM_001530.4:c.1764A>G (HIF1A) MANE Select	NP_001521.1:p.Ala588=
NM_181054.3:c.1764A>G (HIF1A)	NP_851397.1:p.Ala588=
NM_001243084.2:c.1836A>G (HIF1A)	NP_001230013.1:p.Ala612=