Canonical Allele Identifier: CA1053827

Gene: HJV

Linked Data

• dbSNP Id: rs143033106
• ExAC: 1:145415639 G / A
• gnomAD v2: 1-145415639-G-A
• gnomAD v4: 1-146019374-C-T
• COSMIC: COSM4690191
• MyVariant Identifiers: chr1:g.145415639G>A (hg19) ; chr1:g.146019374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019374C>T , CM000663.2:g.146019374C>T	GRCh38
NC_000001.10:g.145415639G>A , CM000663.1:g.145415639G>A	GRCh37
NC_000001.9:g.144126996G>A	NCBI36
NG_011568.1:g.7449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.458G>A MANE Select	ENSP00000337014.5:p.Arg153Gln
ENST00000636675.1:c.-22+324G>A	ENSP00000490072.1:n.-22+324G>A
ENST00000336751.10:c.458G>A	ENSP00000337014.5:p.Arg153Gln
ENST00000357836.5:c.119G>A	ENSP00000350495.5:p.Arg40Gln
ENST00000475797.1:c.-21-674G>A	ENSP00000425716.1:n.-21-674G>A
ENST00000497365.5:c.-22+324G>A	ENSP00000421820.1:n.-22+324G>A
ENST00000634927.1:c.134+324G>A	ENSP00000489347.1:n.134+324G>A
NM_001316767.1:c.-22+324G>A	NP_001303696.1:n.-22+324G>A
NM_145277.4:c.119G>A	NP_660320.3:p.Arg40Gln
NM_202004.3:c.-22+324G>A	NP_973733.1:n.-22+324G>A
NM_213652.3:c.-21-674G>A	NP_998817.1:n.-21-674G>A
NM_213653.3:c.458G>A	NP_998818.1:p.Arg153Gln
XM_005272932.1:c.458G>A	XP_005272989.1:p.Arg153Gln
NM_001316767.2:c.-22+324G>A	NP_001303696.1:n.-22+324G>A
NM_145277.5:c.119G>A	NP_660320.3:p.Arg40Gln
NM_202004.4:c.-22+324G>A	NP_973733.1:n.-22+324G>A
NM_213652.4:c.-21-674G>A	NP_998817.1:n.-21-674G>A
NM_001379352.1:c.458G>A	NP_001366281.1:p.Arg153Gln
NM_213653.4:c.458G>A MANE Select	NP_998818.1:p.Arg153Gln