Canonical Allele Identifier: CA614390421

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1566572219
• gnomAD v2: 14-62197505-GGGCACACATA-G
• gnomAD v3: 14-61730787-GGGCACACATA-G
• gnomAD v4: 14-61730787-GGGCACACATA-G
• MyVariant Identifiers: chr14:g.62197506_62197515del (hg19) ; chr14:g.61730788_61730797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61730792_61730801del , CM000676.2:g.61730792_61730801del	GRCh38
NC_000014.8:g.62197510_62197519del , CM000676.1:g.62197510_62197519del	GRCh37
NC_000014.7:g.61267263_61267272del	NCBI36
NG_029606.1:g.40392_40401del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.774-1626_774-1617del (HIF1A) MANE Select	ENSP00000338018.4:n.774-1626_774-1617del
ENST00000323441.10:c.774-1626_774-1617del (HIF1A)	ENSP00000323326.6:n.774-1626_774-1617del
ENST00000337138.8:c.774-1626_774-1617del (HIF1A)	ENSP00000338018.4:n.774-1626_774-1617del
ENST00000394997.5:c.777-1626_777-1617del (HIF1A)	ENSP00000378446.1:n.777-1626_777-1617del
ENST00000539097.2:c.846-1626_846-1617del (HIF1A)	ENSP00000437955.1:n.846-1626_846-1617del
ENST00000557538.5:c.597-1626_597-1617del (HIF1A)	ENSP00000451696.1:n.597-1626_597-1617del
NM_001243084.1:c.846-1626_846-1617del (HIF1A)	NP_001230013.1:n.846-1626_846-1617del
NM_001530.3:c.774-1626_774-1617del (HIF1A)	NP_001521.1:n.774-1626_774-1617del
NM_181054.2:c.774-1626_774-1617del (HIF1A)	NP_851397.1:n.774-1626_774-1617del
XR_943925.1:n.214-13780_214-13771del (HIF1A-AS3)
XR_943926.1:n.214-13780_214-13771del (HIF1A-AS3)
XR_943927.1:n.214-13780_214-13771del (HIF1A-AS3)
XR_943928.1:n.214-13780_214-13771del (HIF1A-AS3)
XR_943929.1:n.214-13780_214-13771del (HIF1A-AS3)
NR_144368.1:n.214-13780_214-13771del (HIF1A-AS3)
NM_001530.4:c.774-1626_774-1617del (HIF1A) MANE Select	NP_001521.1:n.774-1626_774-1617del
NM_181054.3:c.774-1626_774-1617del (HIF1A)	NP_851397.1:n.774-1626_774-1617del
NM_001243084.2:c.846-1626_846-1617del (HIF1A)	NP_001230013.1:n.846-1626_846-1617del