Canonical Allele Identifier: CA2141400770
Gene: HIF1A HGNC NCBI

Linked Data

dbSNP Id: rs1594854404

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61699989T>C , CM000676.2:g.61699989T>C GRCh38
NC_000014.8:g.62166707T>C , CM000676.1:g.62166707T>C GRCh37
NC_000014.7:g.61236460T>C NCBI36
NG_029606.1:g.9589T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337138.9:c.35+4150T>C MANE Select ENSP00000338018.4:n.35+4150T>C
ENST00000323441.10:c.35+4150T>C ENSP00000323326.6:n.35+4150T>C
ENST00000337138.8:c.35+4150T>C ENSP00000338018.4:n.35+4150T>C
ENST00000394997.5:c.35+4150T>C ENSP00000378446.1:n.35+4150T>C
ENST00000539097.2:c.104+2035T>C ENSP00000437955.1:n.104+2035T>C
ENST00000553999.5:n.327+4150T>C
ENST00000557206.1:n.52+1043T>C
ENST00000557446.5:n.327+4150T>C
ENST00000557538.5:c.-146+2035T>C ENSP00000451696.1:n.-146+2035T>C
NM_001243084.1:c.104+2035T>C NP_001230013.1:n.104+2035T>C
NM_001530.3:c.35+4150T>C NP_001521.1:n.35+4150T>C
NM_181054.2:c.35+4150T>C NP_851397.1:n.35+4150T>C
NM_001530.4:c.35+4150T>C MANE Select NP_001521.1:n.35+4150T>C
NM_181054.3:c.35+4150T>C NP_851397.1:n.35+4150T>C
NM_001243084.2:c.104+2035T>C NP_001230013.1:n.104+2035T>C