Canonical Allele Identifier: CA7216004
Gene: HIF1A HGNC NCBI
HIF1A-AS3 HGNC NCBI

Linked Data

ClinVar Variation Id: 716776
ClinVar RCV Id: RCV000889476
dbSNP Id: rs34005929

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61740835G>A , CM000676.2:g.61740835G>A GRCh38
NC_000014.8:g.62207553G>A , CM000676.1:g.62207553G>A GRCh37
NC_000014.7:g.61277306G>A NCBI36
NG_029606.1:g.50435G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337138.9:c.1740G>A (HIF1A) MANE Select ENSP00000338018.4:p.Leu580=
ENST00000323441.10:c.1740G>A (HIF1A) ENSP00000323326.6:p.Leu580=
ENST00000337138.8:c.1740G>A (HIF1A) ENSP00000338018.4:p.Leu580=
ENST00000394997.5:c.1743G>A (HIF1A) ENSP00000378446.1:p.Leu581=
ENST00000539097.2:c.1812G>A (HIF1A) ENSP00000437955.1:p.Leu604=
ENST00000547430.2:n.648G>A (HIF1A)
ENST00000555014.1:n.386G>A (HIF1A)
ENST00000557538.5:c.1563G>A (HIF1A) ENSP00000451696.1:p.Leu521=
NM_001243084.1:c.1812G>A (HIF1A) NP_001230013.1:p.Leu604=
NM_001530.3:c.1740G>A (HIF1A) NP_001521.1:p.Leu580=
NM_181054.2:c.1740G>A (HIF1A) NP_851397.1:p.Leu580=
XR_943925.1:n.213+10050C>T (HIF1A-AS3)
XR_943926.1:n.213+10050C>T (HIF1A-AS3)
XR_943927.1:n.213+10050C>T (HIF1A-AS3)
XR_943928.1:n.213+10050C>T (HIF1A-AS3)
XR_943929.1:n.213+10050C>T (HIF1A-AS3)
NR_144368.1:n.213+10050C>T (HIF1A-AS3)
NM_001530.4:c.1740G>A (HIF1A) MANE Select NP_001521.1:p.Leu580=
NM_181054.3:c.1740G>A (HIF1A) NP_851397.1:p.Leu580=
NM_001243084.2:c.1812G>A (HIF1A) NP_001230013.1:p.Leu604=