Canonical Allele Identifier: CA389930789
Community Standard Title: NM_001530.4(HIF1A):c.2456T>A (p.Leu819His)
Gene: HIF1A HGNC NCBI
HIF1A-AS2 HGNC NCBI
HIF1A-AS3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.61747060T>A , CM000676.2:g.61747060T>A GRCh38
NC_000014.8:g.62213778T>A , CM000676.1:g.62213778T>A GRCh37
NC_000014.7:g.61283531T>A NCBI36
NG_029606.1:g.56660T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001530.4:c.2456T>A (HIF1A) MANE Select NP_001521.1:p.Leu819His
ENST00000337138.9:c.2456T>A (HIF1A) MANE Select ENSP00000338018.4:p.Leu819His
NM_001243084.1:c.2528T>A (HIF1A) NP_001230013.1:p.Leu843His
NM_001243084.2:c.2528T>A (HIF1A) NP_001230013.1:p.Leu843His
NM_001530.3:c.2456T>A (HIF1A) NP_001521.1:p.Leu819His
NM_181054.2:c.*121T>A (HIF1A) NP_851397.1:n.*121T>A
NM_181054.3:c.*121T>A (HIF1A) NP_851397.1:n.*121T>A
NR_045406.1:n.2030A>T (HIF1A-AS2)
NR_144368.1:n.213+3825A>T (HIF1A-AS3)
ENST00000323441.10:c.*121T>A (HIF1A) ENSP00000323326.6:n.*121T>A
ENST00000337138.8:c.2456T>A (HIF1A) ENSP00000338018.4:p.Leu819His
ENST00000394997.5:c.2459T>A (HIF1A) ENSP00000378446.1:p.Leu820His
ENST00000539097.2:c.2528T>A (HIF1A) ENSP00000437955.1:p.Leu843His
ENST00000556827.1:n.340T>A (HIF1A)
ENST00000557538.5:c.2279T>A (HIF1A) ENSP00000451696.1:p.Leu760His
XR_943925.1:n.213+3825A>T (HIF1A-AS3)
XR_943926.1:n.213+3825A>T (HIF1A-AS3)
XR_943927.1:n.213+3825A>T (HIF1A-AS3)
XR_943928.1:n.213+3825A>T (HIF1A-AS3)
XR_943929.1:n.213+3825A>T (HIF1A-AS3)