Canonical Allele Identifier: CA1053946

Gene: HJV

Linked Data

• ClinVar Variation Id: 1002377
• ClinVar RCV Id: RCV001298797
• dbSNP Id: rs782682125
• ExAC: 1:145416667 A / G
• gnomAD v2: 1-145416667-A-G
• gnomAD v4: 1-146018346-T-C
• MyVariant Identifiers: chr1:g.145416667A>G (hg19) ; chr1:g.146018346T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018346T>C , CM000663.2:g.146018346T>C	GRCh38
NC_000001.10:g.145416667A>G , CM000663.1:g.145416667A>G	GRCh37
NC_000001.9:g.144128024A>G	NCBI36
NG_011568.1:g.8477A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.1012A>G MANE Select	ENSP00000337014.5:p.Ile338Val
ENST00000636675.1:c.334A>G	ENSP00000490072.1:p.Ile112Val
ENST00000336751.10:c.1012A>G	ENSP00000337014.5:p.Ile338Val
ENST00000357836.5:c.673A>G	ENSP00000350495.5:p.Ile225Val
ENST00000475797.1:c.334A>G	ENSP00000425716.1:p.Ile112Val
ENST00000497365.5:c.334A>G	ENSP00000421820.1:p.Ile112Val
NM_001316767.1:c.334A>G	NP_001303696.1:p.Ile112Val
NM_145277.4:c.673A>G	NP_660320.3:p.Ile225Val
NM_202004.3:c.334A>G	NP_973733.1:p.Ile112Val
NM_213652.3:c.334A>G	NP_998817.1:p.Ile112Val
NM_213653.3:c.1012A>G	NP_998818.1:p.Ile338Val
XM_005272932.1:c.1012A>G	XP_005272989.1:p.Ile338Val
NM_001316767.2:c.334A>G	NP_001303696.1:p.Ile112Val
NM_145277.5:c.673A>G	NP_660320.3:p.Ile225Val
NM_202004.4:c.334A>G	NP_973733.1:p.Ile112Val
NM_213652.4:c.334A>G	NP_998817.1:p.Ile112Val
NM_001379352.1:c.1012A>G	NP_001366281.1:p.Ile338Val
NM_213653.4:c.1012A>G MANE Select	NP_998818.1:p.Ile338Val