Canonical Allele Identifier: CA7216212
Gene: HIF1A HGNC NCBI
HIF1A-AS2 HGNC NCBI
HIF1A-AS3 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.61747130T>C
GRCh37 chr14:g.62213848T>C
gnomAD v2:
14:62213848 T / C
gnomAD v3:
14:61747130 T / C
gnomAD v4:
chr14-61747130-T-C
Joint Max Group AF 0.87344963 (AMR)
Genomes Max Group AF 0.85424674 (NFE)
Exomes Max Group AF 0.88568973 (AMR)
dbSNP:
2057482
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61747130T>C , CM000676.2:g.61747130T>C GRCh38
NC_000014.8:g.62213848T>C , CM000676.1:g.62213848T>C GRCh37
NC_000014.7:g.61283601T>C NCBI36
NG_029606.1:g.56730T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337138.9:c.*45T>C (HIF1A) MANE Select ENSP00000338018.4:n.*45T>C
ENST00000323441.10:c.*191T>C (HIF1A) ENSP00000323326.6:n.*191T>C
ENST00000337138.8:c.*45T>C (HIF1A) ENSP00000338018.4:n.*45T>C
ENST00000394997.5:c.*45T>C (HIF1A) ENSP00000378446.1:n.*45T>C
ENST00000539097.2:c.*45T>C (HIF1A) ENSP00000437955.1:n.*45T>C
ENST00000556827.1:n.410T>C (HIF1A)
ENST00000557538.5:c.*45T>C (HIF1A) ENSP00000451696.1:n.*45T>C
NM_001243084.1:c.*45T>C (HIF1A) NP_001230013.1:n.*45T>C
NM_001530.3:c.*45T>C (HIF1A) NP_001521.1:n.*45T>C
NM_181054.2:c.*191T>C (HIF1A) NP_851397.1:n.*191T>C
NR_045406.1:n.1960A>G (HIF1A-AS2)
XR_943925.1:n.213+3755A>G (HIF1A-AS3)
XR_943926.1:n.213+3755A>G (HIF1A-AS3)
XR_943927.1:n.213+3755A>G (HIF1A-AS3)
XR_943928.1:n.213+3755A>G (HIF1A-AS3)
XR_943929.1:n.213+3755A>G (HIF1A-AS3)
NR_144368.1:n.213+3755A>G (HIF1A-AS3)
NM_001530.4:c.*45T>C (HIF1A) MANE Select NP_001521.1:n.*45T>C
NM_181054.3:c.*191T>C (HIF1A) NP_851397.1:n.*191T>C
NM_001243084.2:c.*45T>C (HIF1A) NP_001230013.1:n.*45T>C
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