Canonical Allele Identifier: CA389927970

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1302995438
• gnomAD v3: 14-61740759-C-A
• gnomAD v4: 14-61740759-C-A
• MyVariant Identifiers: chr14:g.62207477C>A (hg19) ; chr14:g.61740759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740759C>A , CM000676.2:g.61740759C>A	GRCh38
NC_000014.8:g.62207477C>A , CM000676.1:g.62207477C>A	GRCh37
NC_000014.7:g.61277230C>A	NCBI36
NG_029606.1:g.50359C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.1664C>A (HIF1A) MANE Select	ENSP00000338018.4:p.Thr555Lys
ENST00000323441.10:c.1664C>A (HIF1A)	ENSP00000323326.6:p.Thr555Lys
ENST00000337138.8:c.1664C>A (HIF1A)	ENSP00000338018.4:p.Thr555Lys
ENST00000394997.5:c.1667C>A (HIF1A)	ENSP00000378446.1:p.Thr556Lys
ENST00000539097.2:c.1736C>A (HIF1A)	ENSP00000437955.1:p.Thr579Lys
ENST00000547430.2:n.572C>A (HIF1A)
ENST00000555014.1:n.310C>A (HIF1A)
ENST00000557538.5:c.1487C>A (HIF1A)	ENSP00000451696.1:p.Thr496Lys
NM_001243084.1:c.1736C>A (HIF1A)	NP_001230013.1:p.Thr579Lys
NM_001530.3:c.1664C>A (HIF1A)	NP_001521.1:p.Thr555Lys
NM_181054.2:c.1664C>A (HIF1A)	NP_851397.1:p.Thr555Lys
XR_943925.1:n.213+10126G>T (HIF1A-AS3)
XR_943926.1:n.213+10126G>T (HIF1A-AS3)
XR_943927.1:n.213+10126G>T (HIF1A-AS3)
XR_943928.1:n.213+10126G>T (HIF1A-AS3)
XR_943929.1:n.213+10126G>T (HIF1A-AS3)
NR_144368.1:n.213+10126G>T (HIF1A-AS3)
NM_001530.4:c.1664C>A (HIF1A) MANE Select	NP_001521.1:p.Thr555Lys
NM_181054.3:c.1664C>A (HIF1A)	NP_851397.1:p.Thr555Lys
NM_001243084.2:c.1736C>A (HIF1A)	NP_001230013.1:p.Thr579Lys