Canonical Allele Identifier: CA7215638

Gene: HIF1A HIF1A-AS3

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61720494G>C , CM000676.2:g.61720494G>C	GRCh38
NC_000014.8:g.62187212G>C , CM000676.1:g.62187212G>C	GRCh37
NC_000014.7:g.61256965G>C	NCBI36
NG_029606.1:g.30094G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001530.4:c.148G>C (HIF1A) MANE Select	NP_001521.1:p.Val50Leu
ENST00000337138.9:c.148G>C (HIF1A) MANE Select	ENSP00000338018.4:p.Val50Leu
NM_001243084.1:c.220G>C (HIF1A)	NP_001230013.1:p.Val74Leu
NM_001243084.2:c.220G>C (HIF1A)	NP_001230013.1:p.Val74Leu
NM_001530.3:c.148G>C (HIF1A)	NP_001521.1:p.Val50Leu
NM_181054.2:c.148G>C (HIF1A)	NP_851397.1:p.Val50Leu
NM_181054.3:c.148G>C (HIF1A)	NP_851397.1:p.Val50Leu
NR_144368.1:n.214-3477C>G (HIF1A-AS3)
ENST00000323441.10:c.148G>C (HIF1A)	ENSP00000323326.6:p.Val50Leu
ENST00000337138.8:c.148G>C (HIF1A)	ENSP00000338018.4:p.Val50Leu
ENST00000394997.5:c.151G>C (HIF1A)	ENSP00000378446.1:p.Val51Leu
ENST00000539097.2:c.220G>C (HIF1A)	ENSP00000437955.1:p.Val74Leu
ENST00000553999.5:n.328-1015G>C (HIF1A)
ENST00000557206.1:n.165G>C (HIF1A)
ENST00000557446.5:n.328-1015G>C (HIF1A)
ENST00000557538.5:c.-30G>C (HIF1A)	ENSP00000451696.1:n.-30G>C
XR_943925.1:n.214-3477C>G (HIF1A-AS3)
XR_943926.1:n.214-3477C>G (HIF1A-AS3)
XR_943927.1:n.214-3477C>G (HIF1A-AS3)
XR_943928.1:n.214-3477C>G (HIF1A-AS3)
XR_943929.1:n.214-3477C>G (HIF1A-AS3)