Canonical Allele Identifier: CA963814617

Gene: HIF1A HIF1A-AS3

Linked Data

• dbSNP Id: rs1594886431
• gnomAD v3: 14-61740679-G-A
• gnomAD v4: 14-61740679-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.61740679G>A , CM000676.2:g.61740679G>A	GRCh38
NC_000014.8:g.62207397G>A , CM000676.1:g.62207397G>A	GRCh37
NC_000014.7:g.61277150G>A	NCBI36
NG_029606.1:g.50279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337138.9:c.1659+52G>A (HIF1A) MANE Select	ENSP00000338018.4:n.1659+52G>A
ENST00000323441.10:c.1659+52G>A (HIF1A)	ENSP00000323326.6:n.1659+52G>A
ENST00000337138.8:c.1659+52G>A (HIF1A)	ENSP00000338018.4:n.1659+52G>A
ENST00000394997.5:c.1662+52G>A (HIF1A)	ENSP00000378446.1:n.1662+52G>A
ENST00000539097.2:c.1731+52G>A (HIF1A)	ENSP00000437955.1:n.1731+52G>A
ENST00000547430.2:n.567+52G>A (HIF1A)
ENST00000555014.1:n.305+52G>A (HIF1A)
ENST00000557538.5:c.1482+52G>A (HIF1A)	ENSP00000451696.1:n.1482+52G>A
NM_001243084.1:c.1731+52G>A (HIF1A)	NP_001230013.1:n.1731+52G>A
NM_001530.3:c.1659+52G>A (HIF1A)	NP_001521.1:n.1659+52G>A
NM_181054.2:c.1659+52G>A (HIF1A)	NP_851397.1:n.1659+52G>A
XR_943925.1:n.213+10206C>T (HIF1A-AS3)
XR_943926.1:n.213+10206C>T (HIF1A-AS3)
XR_943927.1:n.213+10206C>T (HIF1A-AS3)
XR_943928.1:n.213+10206C>T (HIF1A-AS3)
XR_943929.1:n.213+10206C>T (HIF1A-AS3)
NR_144368.1:n.213+10206C>T (HIF1A-AS3)
NM_001530.4:c.1659+52G>A (HIF1A) MANE Select	NP_001521.1:n.1659+52G>A
NM_181054.3:c.1659+52G>A (HIF1A)	NP_851397.1:n.1659+52G>A
NM_001243084.2:c.1731+52G>A (HIF1A)	NP_001230013.1:n.1731+52G>A