Canonical Allele Identifier: CA707516858

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1172193873
• gnomAD v2: 14-62197476-CTT-C
• gnomAD v3: 14-61730758-CTT-C
• gnomAD v4: 14-61730758-CTT-C
• MyVariant Identifiers: chr14:g.62197477_62197478del (hg19) ; chr14:g.61730759_61730760del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61730760_61730761del , CM000676.2:g.61730760_61730761del	GRCh38
NC_000014.8:g.62197478_62197479del , CM000676.1:g.62197478_62197479del	GRCh37
NC_000014.7:g.61267231_61267232del	NCBI36
NG_029606.1:g.40360_40361del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.774-1658_774-1657del (HIF1A) MANE Select	ENSP00000338018.4:n.774-1658_774-1657del
ENST00000323441.10:c.774-1658_774-1657del (HIF1A)	ENSP00000323326.6:n.774-1658_774-1657del
ENST00000337138.8:c.774-1658_774-1657del (HIF1A)	ENSP00000338018.4:n.774-1658_774-1657del
ENST00000394997.5:c.777-1658_777-1657del (HIF1A)	ENSP00000378446.1:n.777-1658_777-1657del
ENST00000539097.2:c.846-1658_846-1657del (HIF1A)	ENSP00000437955.1:n.846-1658_846-1657del
ENST00000557538.5:c.597-1658_597-1657del (HIF1A)	ENSP00000451696.1:n.597-1658_597-1657del
NM_001243084.1:c.846-1658_846-1657del (HIF1A)	NP_001230013.1:n.846-1658_846-1657del
NM_001530.3:c.774-1658_774-1657del (HIF1A)	NP_001521.1:n.774-1658_774-1657del
NM_181054.2:c.774-1658_774-1657del (HIF1A)	NP_851397.1:n.774-1658_774-1657del
XR_943925.1:n.214-13743_214-13742del (HIF1A-AS3)
XR_943926.1:n.214-13743_214-13742del (HIF1A-AS3)
XR_943927.1:n.214-13743_214-13742del (HIF1A-AS3)
XR_943928.1:n.214-13743_214-13742del (HIF1A-AS3)
XR_943929.1:n.214-13743_214-13742del (HIF1A-AS3)
NR_144368.1:n.214-13743_214-13742del (HIF1A-AS3)
NM_001530.4:c.774-1658_774-1657del (HIF1A) MANE Select	NP_001521.1:n.774-1658_774-1657del
NM_181054.3:c.774-1658_774-1657del (HIF1A)	NP_851397.1:n.774-1658_774-1657del
NM_001243084.2:c.846-1658_846-1657del (HIF1A)	NP_001230013.1:n.846-1658_846-1657del