Canonical Allele Identifier: CA389927977

Gene: HIF1A HIF1A-AS3

Linked Data

• MyVariant Identifiers: chr14:g.62207479G>C (hg19) ; chr14:g.61740761G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740761G>C , CM000676.2:g.61740761G>C	GRCh38
NC_000014.8:g.62207479G>C , CM000676.1:g.62207479G>C	GRCh37
NC_000014.7:g.61277232G>C	NCBI36
NG_029606.1:g.50361G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.1666G>C (HIF1A) MANE Select	ENSP00000338018.4:p.Asp556His
ENST00000323441.10:c.1666G>C (HIF1A)	ENSP00000323326.6:p.Asp556His
ENST00000337138.8:c.1666G>C (HIF1A)	ENSP00000338018.4:p.Asp556His
ENST00000394997.5:c.1669G>C (HIF1A)	ENSP00000378446.1:p.Asp557His
ENST00000539097.2:c.1738G>C (HIF1A)	ENSP00000437955.1:p.Asp580His
ENST00000547430.2:n.574G>C (HIF1A)
ENST00000555014.1:n.312G>C (HIF1A)
ENST00000557538.5:c.1489G>C (HIF1A)	ENSP00000451696.1:p.Asp497His
NM_001243084.1:c.1738G>C (HIF1A)	NP_001230013.1:p.Asp580His
NM_001530.3:c.1666G>C (HIF1A)	NP_001521.1:p.Asp556His
NM_181054.2:c.1666G>C (HIF1A)	NP_851397.1:p.Asp556His
XR_943925.1:n.213+10124C>G (HIF1A-AS3)
XR_943926.1:n.213+10124C>G (HIF1A-AS3)
XR_943927.1:n.213+10124C>G (HIF1A-AS3)
XR_943928.1:n.213+10124C>G (HIF1A-AS3)
XR_943929.1:n.213+10124C>G (HIF1A-AS3)
NR_144368.1:n.213+10124C>G (HIF1A-AS3)
NM_001530.4:c.1666G>C (HIF1A) MANE Select	NP_001521.1:p.Asp556His
NM_181054.3:c.1666G>C (HIF1A)	NP_851397.1:p.Asp556His
NM_001243084.2:c.1738G>C (HIF1A)	NP_001230013.1:p.Asp580His