Canonical Allele Identifier: CA261771364

Gene: HIF1A

Linked Data

• dbSNP Id: rs948701097
• MyVariant Identifiers: chr14:g.62166789_62166790del (hg19) ; chr14:g.61700071_61700072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61700073_61700074del , CM000676.2:g.61700073_61700074del	GRCh38
NC_000014.8:g.62166791_62166792del , CM000676.1:g.62166791_62166792del	GRCh37
NC_000014.7:g.61236544_61236545del	NCBI36
NG_029606.1:g.9673_9674del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.35+4234_35+4235del MANE Select	ENSP00000338018.4:n.35+4234_35+4235del
ENST00000323441.10:c.35+4234_35+4235del	ENSP00000323326.6:n.35+4234_35+4235del
ENST00000337138.8:c.35+4234_35+4235del	ENSP00000338018.4:n.35+4234_35+4235del
ENST00000394997.5:c.35+4234_35+4235del	ENSP00000378446.1:n.35+4234_35+4235del
ENST00000539097.2:c.104+2119_104+2120del	ENSP00000437955.1:n.104+2119_104+2120del
ENST00000553999.5:n.327+4234_327+4235del
ENST00000557206.1:n.52+1127_52+1128del
ENST00000557446.5:n.327+4234_327+4235del
ENST00000557538.5:c.-146+2119_-146+2120del	ENSP00000451696.1:n.-146+2119_-146+2120del
NM_001243084.1:c.104+2119_104+2120del	NP_001230013.1:n.104+2119_104+2120del
NM_001530.3:c.35+4234_35+4235del	NP_001521.1:n.35+4234_35+4235del
NM_181054.2:c.35+4234_35+4235del	NP_851397.1:n.35+4234_35+4235del
NM_001530.4:c.35+4234_35+4235del MANE Select	NP_001521.1:n.35+4234_35+4235del
NM_181054.3:c.35+4234_35+4235del	NP_851397.1:n.35+4234_35+4235del
NM_001243084.2:c.104+2119_104+2120del	NP_001230013.1:n.104+2119_104+2120del