Canonical Allele Identifier: CA420602674

Gene: HJV

Linked Data

• ClinVar Variation Id: 2758613
• ClinVar RCV Id: RCV003569788
• dbSNP Id: rs1553769665
• gnomAD v2: 1-145415676-G-A
• gnomAD v4: 1-146019337-C-T
• MyVariant Identifiers: chr1:g.145415676G>A (hg19) ; chr1:g.146019337C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019337C>T , CM000663.2:g.146019337C>T	GRCh38
NC_000001.10:g.145415676G>A , CM000663.1:g.145415676G>A	GRCh37
NC_000001.9:g.144127033G>A	NCBI36
NG_011568.1:g.7486G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.495G>A MANE Select	ENSP00000337014.5:p.Leu165=
ENST00000636675.1:c.-22+361G>A	ENSP00000490072.1:n.-22+361G>A
ENST00000336751.10:c.495G>A	ENSP00000337014.5:p.Leu165=
ENST00000357836.5:c.156G>A	ENSP00000350495.5:p.Leu52=
ENST00000475797.1:c.-21-637G>A	ENSP00000425716.1:n.-21-637G>A
ENST00000497365.5:c.-22+361G>A	ENSP00000421820.1:n.-22+361G>A
ENST00000634927.1:c.134+361G>A	ENSP00000489347.1:n.134+361G>A
NM_001316767.1:c.-22+361G>A	NP_001303696.1:n.-22+361G>A
NM_145277.4:c.156G>A	NP_660320.3:p.Leu52=
NM_202004.3:c.-22+361G>A	NP_973733.1:n.-22+361G>A
NM_213652.3:c.-21-637G>A	NP_998817.1:n.-21-637G>A
NM_213653.3:c.495G>A	NP_998818.1:p.Leu165=
XM_005272932.1:c.495G>A	XP_005272989.1:p.Leu165=
NM_001316767.2:c.-22+361G>A	NP_001303696.1:n.-22+361G>A
NM_145277.5:c.156G>A	NP_660320.3:p.Leu52=
NM_202004.4:c.-22+361G>A	NP_973733.1:n.-22+361G>A
NM_213652.4:c.-21-637G>A	NP_998817.1:n.-21-637G>A
NM_001379352.1:c.495G>A	NP_001366281.1:p.Leu165=
NM_213653.4:c.495G>A MANE Select	NP_998818.1:p.Leu165=