Canonical Allele Identifier: CA707498668
Gene: HIF1A HGNC NCBI

Linked Data

dbSNP Id: rs1250609975

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61699962_61699965del , CM000676.2:g.61699962_61699965del GRCh38
NC_000014.8:g.62166680_62166683del , CM000676.1:g.62166680_62166683del GRCh37
NC_000014.7:g.61236433_61236436del NCBI36
NG_029606.1:g.9562_9565del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337138.9:c.35+4123_35+4126del MANE Select ENSP00000338018.4:n.35+4123_35+4126del
ENST00000323441.10:c.35+4123_35+4126del ENSP00000323326.6:n.35+4123_35+4126del
ENST00000337138.8:c.35+4123_35+4126del ENSP00000338018.4:n.35+4123_35+4126del
ENST00000394997.5:c.35+4123_35+4126del ENSP00000378446.1:n.35+4123_35+4126del
ENST00000539097.2:c.104+2008_104+2011del ENSP00000437955.1:n.104+2008_104+2011del
ENST00000553999.5:n.327+4123_327+4126del
ENST00000557206.1:n.52+1016_52+1019del
ENST00000557446.5:n.327+4123_327+4126del
ENST00000557538.5:c.-146+2008_-146+2011del ENSP00000451696.1:n.-146+2008_-146+2011del
NM_001243084.1:c.104+2008_104+2011del NP_001230013.1:n.104+2008_104+2011del
NM_001530.3:c.35+4123_35+4126del NP_001521.1:n.35+4123_35+4126del
NM_181054.2:c.35+4123_35+4126del NP_851397.1:n.35+4123_35+4126del
NM_001530.4:c.35+4123_35+4126del MANE Select NP_001521.1:n.35+4123_35+4126del
NM_181054.3:c.35+4123_35+4126del NP_851397.1:n.35+4123_35+4126del
NM_001243084.2:c.104+2008_104+2011del NP_001230013.1:n.104+2008_104+2011del