Canonical Allele Identifier: CA707498732

Gene: HIF1A

Linked Data

• dbSNP Id: rs1159340838
• gnomAD v3: 14-61700096-AAAC-A
• gnomAD v4: 14-61700096-AAAC-A
• MyVariant Identifiers: chr14:g.62166815_62166817del (hg19) ; chr14:g.61700097_61700099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61700099_61700101del , CM000676.2:g.61700099_61700101del	GRCh38
NC_000014.8:g.62166817_62166819del , CM000676.1:g.62166817_62166819del	GRCh37
NC_000014.7:g.61236570_61236572del	NCBI36
NG_029606.1:g.9699_9701del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.35+4260_35+4262del MANE Select	ENSP00000338018.4:n.35+4260_35+4262del
ENST00000323441.10:c.35+4260_35+4262del	ENSP00000323326.6:n.35+4260_35+4262del
ENST00000337138.8:c.35+4260_35+4262del	ENSP00000338018.4:n.35+4260_35+4262del
ENST00000394997.5:c.35+4260_35+4262del	ENSP00000378446.1:n.35+4260_35+4262del
ENST00000539097.2:c.104+2145_104+2147del	ENSP00000437955.1:n.104+2145_104+2147del
ENST00000553999.5:n.327+4260_327+4262del
ENST00000557206.1:n.52+1153_52+1155del
ENST00000557446.5:n.327+4260_327+4262del
ENST00000557538.5:c.-146+2145_-146+2147del	ENSP00000451696.1:n.-146+2145_-146+2147del
NM_001243084.1:c.104+2145_104+2147del	NP_001230013.1:n.104+2145_104+2147del
NM_001530.3:c.35+4260_35+4262del	NP_001521.1:n.35+4260_35+4262del
NM_181054.2:c.35+4260_35+4262del	NP_851397.1:n.35+4260_35+4262del
NM_001530.4:c.35+4260_35+4262del MANE Select	NP_001521.1:n.35+4260_35+4262del
NM_181054.3:c.35+4260_35+4262del	NP_851397.1:n.35+4260_35+4262del
NM_001243084.2:c.104+2145_104+2147del	NP_001230013.1:n.104+2145_104+2147del