Canonical Allele Identifier: CA389928421

Gene: HIF1A HIF1A-AS3

Linked Data

• gnomAD v4: 14-61740878-C-G
• MyVariant Identifiers: chr14:g.62207596C>G (hg19) ; chr14:g.61740878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740878C>G , CM000676.2:g.61740878C>G	GRCh38
NC_000014.8:g.62207596C>G , CM000676.1:g.62207596C>G	GRCh37
NC_000014.7:g.61277349C>G	NCBI36
NG_029606.1:g.50478C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.1783C>G (HIF1A) MANE Select	ENSP00000338018.4:p.Pro595Ala
ENST00000323441.10:c.1783C>G (HIF1A)	ENSP00000323326.6:p.Pro595Ala
ENST00000337138.8:c.1783C>G (HIF1A)	ENSP00000338018.4:p.Pro595Ala
ENST00000394997.5:c.1786C>G (HIF1A)	ENSP00000378446.1:p.Pro596Ala
ENST00000539097.2:c.1855C>G (HIF1A)	ENSP00000437955.1:p.Pro619Ala
ENST00000547430.2:n.691C>G (HIF1A)
ENST00000555014.1:n.429C>G (HIF1A)
ENST00000557538.5:c.1606C>G (HIF1A)	ENSP00000451696.1:p.Pro536Ala
NM_001243084.1:c.1855C>G (HIF1A)	NP_001230013.1:p.Pro619Ala
NM_001530.3:c.1783C>G (HIF1A)	NP_001521.1:p.Pro595Ala
NM_181054.2:c.1783C>G (HIF1A)	NP_851397.1:p.Pro595Ala
XR_943925.1:n.213+10007G>C (HIF1A-AS3)
XR_943926.1:n.213+10007G>C (HIF1A-AS3)
XR_943927.1:n.213+10007G>C (HIF1A-AS3)
XR_943928.1:n.213+10007G>C (HIF1A-AS3)
XR_943929.1:n.213+10007G>C (HIF1A-AS3)
NR_144368.1:n.213+10007G>C (HIF1A-AS3)
NM_001530.4:c.1783C>G (HIF1A) MANE Select	NP_001521.1:p.Pro595Ala
NM_181054.3:c.1783C>G (HIF1A)	NP_851397.1:p.Pro595Ala
NM_001243084.2:c.1855C>G (HIF1A)	NP_001230013.1:p.Pro619Ala