Canonical Allele Identifier: CA261771362

Gene: HIF1A

Linked Data

• dbSNP Id: rs916179373
• gnomAD v2: 14-62166779-T-C
• gnomAD v3: 14-61700061-T-C
• gnomAD v4: 14-61700061-T-C
• MyVariant Identifiers: chr14:g.62166779T>C (hg19) ; chr14:g.61700061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61700061T>C , CM000676.2:g.61700061T>C	GRCh38
NC_000014.8:g.62166779T>C , CM000676.1:g.62166779T>C	GRCh37
NC_000014.7:g.61236532T>C	NCBI36
NG_029606.1:g.9661T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.35+4222T>C MANE Select	ENSP00000338018.4:n.35+4222T>C
ENST00000323441.10:c.35+4222T>C	ENSP00000323326.6:n.35+4222T>C
ENST00000337138.8:c.35+4222T>C	ENSP00000338018.4:n.35+4222T>C
ENST00000394997.5:c.35+4222T>C	ENSP00000378446.1:n.35+4222T>C
ENST00000539097.2:c.104+2107T>C	ENSP00000437955.1:n.104+2107T>C
ENST00000553999.5:n.327+4222T>C
ENST00000557206.1:n.52+1115T>C
ENST00000557446.5:n.327+4222T>C
ENST00000557538.5:c.-146+2107T>C	ENSP00000451696.1:n.-146+2107T>C
NM_001243084.1:c.104+2107T>C	NP_001230013.1:n.104+2107T>C
NM_001530.3:c.35+4222T>C	NP_001521.1:n.35+4222T>C
NM_181054.2:c.35+4222T>C	NP_851397.1:n.35+4222T>C
NM_001530.4:c.35+4222T>C MANE Select	NP_001521.1:n.35+4222T>C
NM_181054.3:c.35+4222T>C	NP_851397.1:n.35+4222T>C
NM_001243084.2:c.104+2107T>C	NP_001230013.1:n.104+2107T>C