Canonical Allele Identifier: CA614390418

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1161035761
• gnomAD v2: 14-62197409-TTTATCACATTATTTCC-T
• gnomAD v3: 14-61730691-TTTATCACATTATTTCC-T
• gnomAD v4: 14-61730691-TTTATCACATTATTTCC-T
• MyVariant Identifiers: chr14:g.62197410_62197425del (hg19) ; chr14:g.61730692_61730707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61730693_61730708del , CM000676.2:g.61730693_61730708del	GRCh38
NC_000014.8:g.62197411_62197426del , CM000676.1:g.62197411_62197426del	GRCh37
NC_000014.7:g.61267164_61267179del	NCBI36
NG_029606.1:g.40293_40308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.774-1725_774-1710del (HIF1A) MANE Select	ENSP00000338018.4:n.774-1725_774-1710del
ENST00000323441.10:c.774-1725_774-1710del (HIF1A)	ENSP00000323326.6:n.774-1725_774-1710del
ENST00000337138.8:c.774-1725_774-1710del (HIF1A)	ENSP00000338018.4:n.774-1725_774-1710del
ENST00000394997.5:c.777-1725_777-1710del (HIF1A)	ENSP00000378446.1:n.777-1725_777-1710del
ENST00000539097.2:c.846-1725_846-1710del (HIF1A)	ENSP00000437955.1:n.846-1725_846-1710del
ENST00000557538.5:c.597-1725_597-1710del (HIF1A)	ENSP00000451696.1:n.597-1725_597-1710del
NM_001243084.1:c.846-1725_846-1710del (HIF1A)	NP_001230013.1:n.846-1725_846-1710del
NM_001530.3:c.774-1725_774-1710del (HIF1A)	NP_001521.1:n.774-1725_774-1710del
NM_181054.2:c.774-1725_774-1710del (HIF1A)	NP_851397.1:n.774-1725_774-1710del
XR_943925.1:n.214-13690_214-13675del (HIF1A-AS3)
XR_943926.1:n.214-13690_214-13675del (HIF1A-AS3)
XR_943927.1:n.214-13690_214-13675del (HIF1A-AS3)
XR_943928.1:n.214-13690_214-13675del (HIF1A-AS3)
XR_943929.1:n.214-13690_214-13675del (HIF1A-AS3)
NR_144368.1:n.214-13690_214-13675del (HIF1A-AS3)
NM_001530.4:c.774-1725_774-1710del (HIF1A) MANE Select	NP_001521.1:n.774-1725_774-1710del
NM_181054.3:c.774-1725_774-1710del (HIF1A)	NP_851397.1:n.774-1725_774-1710del
NM_001243084.2:c.846-1725_846-1710del (HIF1A)	NP_001230013.1:n.846-1725_846-1710del