Canonical Allele Identifier: CA389928004

Gene: HIF1A HIF1A-AS3

Linked Data

• gnomAD v4: 14-61740767-G-A
• MyVariant Identifiers: chr14:g.62207485G>A (hg19) ; chr14:g.61740767G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740767G>A , CM000676.2:g.61740767G>A	GRCh38
NC_000014.8:g.62207485G>A , CM000676.1:g.62207485G>A	GRCh37
NC_000014.7:g.61277238G>A	NCBI36
NG_029606.1:g.50367G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.1672G>A (HIF1A) MANE Select	ENSP00000338018.4:p.Asp558Asn
ENST00000323441.10:c.1672G>A (HIF1A)	ENSP00000323326.6:p.Asp558Asn
ENST00000337138.8:c.1672G>A (HIF1A)	ENSP00000338018.4:p.Asp558Asn
ENST00000394997.5:c.1675G>A (HIF1A)	ENSP00000378446.1:p.Asp559Asn
ENST00000539097.2:c.1744G>A (HIF1A)	ENSP00000437955.1:p.Asp582Asn
ENST00000547430.2:n.580G>A (HIF1A)
ENST00000555014.1:n.318G>A (HIF1A)
ENST00000557538.5:c.1495G>A (HIF1A)	ENSP00000451696.1:p.Asp499Asn
NM_001243084.1:c.1744G>A (HIF1A)	NP_001230013.1:p.Asp582Asn
NM_001530.3:c.1672G>A (HIF1A)	NP_001521.1:p.Asp558Asn
NM_181054.2:c.1672G>A (HIF1A)	NP_851397.1:p.Asp558Asn
XR_943925.1:n.213+10118C>T (HIF1A-AS3)
XR_943926.1:n.213+10118C>T (HIF1A-AS3)
XR_943927.1:n.213+10118C>T (HIF1A-AS3)
XR_943928.1:n.213+10118C>T (HIF1A-AS3)
XR_943929.1:n.213+10118C>T (HIF1A-AS3)
NR_144368.1:n.213+10118C>T (HIF1A-AS3)
NM_001530.4:c.1672G>A (HIF1A) MANE Select	NP_001521.1:p.Asp558Asn
NM_181054.3:c.1672G>A (HIF1A)	NP_851397.1:p.Asp558Asn
NM_001243084.2:c.1744G>A (HIF1A)	NP_001230013.1:p.Asp582Asn