Canonical Allele Identifier: CA248988

Gene: HIF1A HIF1A-AS3

Linked Data

• ClinVar Variation Id: 218593
• ClinVar RCV Id: RCV000202793
• dbSNP Id: rs142325668
• ExAC: 14:62207848 C / G
• gnomAD v2: 14-62207848-C-G
• gnomAD v3: 14-61741130-C-G
• gnomAD v4: 14-61741130-C-G
• MyVariant Identifiers: chr14:g.62207848C>G (hg19) ; chr14:g.61741130C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61741130C>G , CM000676.2:g.61741130C>G	GRCh38
NC_000014.8:g.62207848C>G , CM000676.1:g.62207848C>G	GRCh37
NC_000014.7:g.61277601C>G	NCBI36
NG_029606.1:g.50730C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.2035C>G (HIF1A) MANE Select	ENSP00000338018.4:p.Gln679Glu
ENST00000323441.10:c.2035C>G (HIF1A)	ENSP00000323326.6:p.Gln679Glu
ENST00000337138.8:c.2035C>G (HIF1A)	ENSP00000338018.4:p.Gln679Glu
ENST00000394997.5:c.2038C>G (HIF1A)	ENSP00000378446.1:p.Gln680Glu
ENST00000539097.2:c.2107C>G (HIF1A)	ENSP00000437955.1:p.Gln703Glu
ENST00000555014.1:n.681C>G (HIF1A)
ENST00000557538.5:c.1858C>G (HIF1A)	ENSP00000451696.1:p.Gln620Glu
NM_001243084.1:c.2107C>G (HIF1A)	NP_001230013.1:p.Gln703Glu
NM_001530.3:c.2035C>G (HIF1A)	NP_001521.1:p.Gln679Glu
NM_181054.2:c.2035C>G (HIF1A)	NP_851397.1:p.Gln679Glu
XR_943925.1:n.213+9755G>C (HIF1A-AS3)
XR_943926.1:n.213+9755G>C (HIF1A-AS3)
XR_943927.1:n.213+9755G>C (HIF1A-AS3)
XR_943928.1:n.213+9755G>C (HIF1A-AS3)
XR_943929.1:n.213+9755G>C (HIF1A-AS3)
NR_144368.1:n.213+9755G>C (HIF1A-AS3)
NM_001530.4:c.2035C>G (HIF1A) MANE Select	NP_001521.1:p.Gln679Glu
NM_181054.3:c.2035C>G (HIF1A)	NP_851397.1:p.Gln679Glu
NM_001243084.2:c.2107C>G (HIF1A)	NP_001230013.1:p.Gln703Glu