Canonical Allele Identifier: CA261777556

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs908218148
• gnomAD v2: 14-62207416-GTT-G
• gnomAD v3: 14-61740698-GTT-G
• gnomAD v4: 14-61740698-GTT-G
• MyVariant Identifiers: chr14:g.62207417_62207418del (hg19) ; chr14:g.61740699_61740700del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740703_61740704del , CM000676.2:g.61740703_61740704del	GRCh38
NC_000014.8:g.62207421_62207422del , CM000676.1:g.62207421_62207422del	GRCh37
NC_000014.7:g.61277174_61277175del	NCBI36
NG_029606.1:g.50303_50304del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337138.9:c.1660-52_1660-51del (HIF1A) MANE Select	ENSP00000338018.4:n.1660-52_1660-51del
ENST00000323441.10:c.1660-52_1660-51del (HIF1A)	ENSP00000323326.6:n.1660-52_1660-51del
ENST00000337138.8:c.1660-52_1660-51del (HIF1A)	ENSP00000338018.4:n.1660-52_1660-51del
ENST00000394997.5:c.1663-52_1663-51del (HIF1A)	ENSP00000378446.1:n.1663-52_1663-51del
ENST00000539097.2:c.1732-52_1732-51del (HIF1A)	ENSP00000437955.1:n.1732-52_1732-51del
ENST00000547430.2:n.568-52_568-51del (HIF1A)
ENST00000555014.1:n.306-52_306-51del (HIF1A)
ENST00000557538.5:c.1483-52_1483-51del (HIF1A)	ENSP00000451696.1:n.1483-52_1483-51del
NM_001243084.1:c.1732-52_1732-51del (HIF1A)	NP_001230013.1:n.1732-52_1732-51del
NM_001530.3:c.1660-52_1660-51del (HIF1A)	NP_001521.1:n.1660-52_1660-51del
NM_181054.2:c.1660-52_1660-51del (HIF1A)	NP_851397.1:n.1660-52_1660-51del
XR_943925.1:n.213+10185_213+10186del (HIF1A-AS3)
XR_943926.1:n.213+10185_213+10186del (HIF1A-AS3)
XR_943927.1:n.213+10185_213+10186del (HIF1A-AS3)
XR_943928.1:n.213+10185_213+10186del (HIF1A-AS3)
XR_943929.1:n.213+10185_213+10186del (HIF1A-AS3)
NR_144368.1:n.213+10185_213+10186del (HIF1A-AS3)
NM_001530.4:c.1660-52_1660-51del (HIF1A) MANE Select	NP_001521.1:n.1660-52_1660-51del
NM_181054.3:c.1660-52_1660-51del (HIF1A)	NP_851397.1:n.1660-52_1660-51del
NM_001243084.2:c.1732-52_1732-51del (HIF1A)	NP_001230013.1:n.1732-52_1732-51del