Canonical Allele Identifier: CA261777557

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs908218148
• gnomAD v2: 14-62207416-G-GT
• gnomAD v3: 14-61740698-G-GT
• gnomAD v4: 14-61740698-G-GT
• MyVariant Identifiers: chr14:g.62207418_62207419insT (hg19) ; chr14:g.62207416_62207417insT (hg19) ; chr14:g.61740700_61740701insT (hg38) ; chr14:g.61740698_61740699insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740704dup , CM000676.2:g.61740704dup	GRCh38
NC_000014.8:g.62207422dup , CM000676.1:g.62207422dup	GRCh37
NC_000014.7:g.61277175dup	NCBI36
NG_029606.1:g.50304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.1660-51dup (HIF1A) MANE Select	ENSP00000338018.4:n.1660-51dup
ENST00000323441.10:c.1660-51dup (HIF1A)	ENSP00000323326.6:n.1660-51dup
ENST00000337138.8:c.1660-51dup (HIF1A)	ENSP00000338018.4:n.1660-51dup
ENST00000394997.5:c.1663-51dup (HIF1A)	ENSP00000378446.1:n.1663-51dup
ENST00000539097.2:c.1732-51dup (HIF1A)	ENSP00000437955.1:n.1732-51dup
ENST00000547430.2:n.568-51dup (HIF1A)
ENST00000555014.1:n.306-51dup (HIF1A)
ENST00000557538.5:c.1483-51dup (HIF1A)	ENSP00000451696.1:n.1483-51dup
NM_001243084.1:c.1732-51dup (HIF1A)	NP_001230013.1:n.1732-51dup
NM_001530.3:c.1660-51dup (HIF1A)	NP_001521.1:n.1660-51dup
NM_181054.2:c.1660-51dup (HIF1A)	NP_851397.1:n.1660-51dup
XR_943925.1:n.213+10186dup (HIF1A-AS3)
XR_943926.1:n.213+10186dup (HIF1A-AS3)
XR_943927.1:n.213+10186dup (HIF1A-AS3)
XR_943928.1:n.213+10186dup (HIF1A-AS3)
XR_943929.1:n.213+10186dup (HIF1A-AS3)
NR_144368.1:n.213+10186dup (HIF1A-AS3)
NM_001530.4:c.1660-51dup (HIF1A) MANE Select	NP_001521.1:n.1660-51dup
NM_181054.3:c.1660-51dup (HIF1A)	NP_851397.1:n.1660-51dup
NM_001243084.2:c.1732-51dup (HIF1A)	NP_001230013.1:n.1732-51dup