Canonical Allele Identifier: CA614391435

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1566577276
• gnomAD v2: 14-62207393-TG-T
• MyVariant Identifiers: chr14:g.62207394del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740676del , CM000676.2:g.61740676del	GRCh38
NC_000014.8:g.62207394del , CM000676.1:g.62207394del	GRCh37
NC_000014.7:g.61277147del	NCBI36
NG_029606.1:g.50276del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.1659+49del (HIF1A) MANE Select	ENSP00000338018.4:n.1659+49del
ENST00000323441.10:c.1659+49del (HIF1A)	ENSP00000323326.6:n.1659+49del
ENST00000337138.8:c.1659+49del (HIF1A)	ENSP00000338018.4:n.1659+49del
ENST00000394997.5:c.1662+49del (HIF1A)	ENSP00000378446.1:n.1662+49del
ENST00000539097.2:c.1731+49del (HIF1A)	ENSP00000437955.1:n.1731+49del
ENST00000547430.2:n.567+49del (HIF1A)
ENST00000555014.1:n.305+49del (HIF1A)
ENST00000557538.5:c.1482+49del (HIF1A)	ENSP00000451696.1:n.1482+49del
NM_001243084.1:c.1731+49del (HIF1A)	NP_001230013.1:n.1731+49del
NM_001530.3:c.1659+49del (HIF1A)	NP_001521.1:n.1659+49del
NM_181054.2:c.1659+49del (HIF1A)	NP_851397.1:n.1659+49del
XR_943925.1:n.213+10209del (HIF1A-AS3)
XR_943926.1:n.213+10209del (HIF1A-AS3)
XR_943927.1:n.213+10209del (HIF1A-AS3)
XR_943928.1:n.213+10209del (HIF1A-AS3)
XR_943929.1:n.213+10209del (HIF1A-AS3)
NR_144368.1:n.213+10209del (HIF1A-AS3)
NM_001530.4:c.1659+49del (HIF1A) MANE Select	NP_001521.1:n.1659+49del
NM_181054.3:c.1659+49del (HIF1A)	NP_851397.1:n.1659+49del
NM_001243084.2:c.1731+49del (HIF1A)	NP_001230013.1:n.1731+49del