Canonical Allele Identifier: CA336923

Gene: HJV

Linked Data

• ClinVar Variation Id: 216847
• ClinVar RCV Id: RCV001343367
• dbSNP Id: rs863224819
• gnomAD v2: 1-145416404-G-T
• gnomAD v3: 1-146018609-C-A
• gnomAD v4: 1-146018609-C-A
• MyVariant Identifiers: chr1:g.145416404G>T (hg19) ; chr1:g.146018609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018609C>A , CM000663.2:g.146018609C>A	GRCh38
NC_000001.10:g.145416404G>T , CM000663.1:g.145416404G>T	GRCh37
NC_000001.9:g.144127761G>T	NCBI36
NG_011568.1:g.8214G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.749G>T MANE Select	ENSP00000337014.5:p.Gly250Val
ENST00000636675.1:c.71G>T	ENSP00000490072.1:p.Gly24Val
ENST00000336751.10:c.749G>T	ENSP00000337014.5:p.Gly250Val
ENST00000357836.5:c.410G>T	ENSP00000350495.5:p.Gly137Val
ENST00000475797.1:c.71G>T	ENSP00000425716.1:p.Gly24Val
ENST00000497365.5:c.71G>T	ENSP00000421820.1:p.Gly24Val
ENST00000634927.1:c.*13G>T	ENSP00000489347.1:n.*13G>T
NM_001316767.1:c.71G>T	NP_001303696.1:p.Gly24Val
NM_145277.4:c.410G>T	NP_660320.3:p.Gly137Val
NM_202004.3:c.71G>T	NP_973733.1:p.Gly24Val
NM_213652.3:c.71G>T	NP_998817.1:p.Gly24Val
NM_213653.3:c.749G>T	NP_998818.1:p.Gly250Val
XM_005272932.1:c.749G>T	XP_005272989.1:p.Gly250Val
NM_001316767.2:c.71G>T	NP_001303696.1:p.Gly24Val
NM_145277.5:c.410G>T	NP_660320.3:p.Gly137Val
NM_202004.4:c.71G>T	NP_973733.1:p.Gly24Val
NM_213652.4:c.71G>T	NP_998817.1:p.Gly24Val
NM_001379352.1:c.749G>T	NP_001366281.1:p.Gly250Val
NM_213653.4:c.749G>T MANE Select	NP_998818.1:p.Gly250Val