Canonical Allele Identifier: CA2141400742
Gene: HIF1A HGNC NCBI

Linked Data

dbSNP Id: rs2044160502

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61699946G>A , CM000676.2:g.61699946G>A GRCh38
NC_000014.8:g.62166664G>A , CM000676.1:g.62166664G>A GRCh37
NC_000014.7:g.61236417G>A NCBI36
NG_029606.1:g.9546G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337138.9:c.35+4107G>A MANE Select ENSP00000338018.4:n.35+4107G>A
ENST00000323441.10:c.35+4107G>A ENSP00000323326.6:n.35+4107G>A
ENST00000337138.8:c.35+4107G>A ENSP00000338018.4:n.35+4107G>A
ENST00000394997.5:c.35+4107G>A ENSP00000378446.1:n.35+4107G>A
ENST00000539097.2:c.104+1992G>A ENSP00000437955.1:n.104+1992G>A
ENST00000553999.5:n.327+4107G>A
ENST00000557206.1:n.52+1000G>A
ENST00000557446.5:n.327+4107G>A
ENST00000557538.5:c.-146+1992G>A ENSP00000451696.1:n.-146+1992G>A
NM_001243084.1:c.104+1992G>A NP_001230013.1:n.104+1992G>A
NM_001530.3:c.35+4107G>A NP_001521.1:n.35+4107G>A
NM_181054.2:c.35+4107G>A NP_851397.1:n.35+4107G>A
NM_001530.4:c.35+4107G>A MANE Select NP_001521.1:n.35+4107G>A
NM_181054.3:c.35+4107G>A NP_851397.1:n.35+4107G>A
NM_001243084.2:c.104+1992G>A NP_001230013.1:n.104+1992G>A