Canonical Allele Identifier: CA29824864

Gene: HJV

Linked Data

• dbSNP Id: rs937971318
• gnomAD v2: 1-145415612-C-T
• gnomAD v4: 1-146019401-G-A
• COSMIC: COSM3688964
• MyVariant Identifiers: chr1:g.145415612C>T (hg19) ; chr1:g.146019401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019401G>A , CM000663.2:g.146019401G>A	GRCh38
NC_000001.10:g.145415612C>T , CM000663.1:g.145415612C>T	GRCh37
NC_000001.9:g.144126969C>T	NCBI36
NG_011568.1:g.7422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.431C>T MANE Select	ENSP00000337014.5:p.Ala144Val
ENST00000636675.1:c.-22+297C>T	ENSP00000490072.1:n.-22+297C>T
ENST00000336751.10:c.431C>T	ENSP00000337014.5:p.Ala144Val
ENST00000357836.5:c.92C>T	ENSP00000350495.5:p.Ala31Val
ENST00000475797.1:c.-21-701C>T	ENSP00000425716.1:n.-21-701C>T
ENST00000497365.5:c.-22+297C>T	ENSP00000421820.1:n.-22+297C>T
ENST00000634927.1:c.134+297C>T	ENSP00000489347.1:n.134+297C>T
NM_001316767.1:c.-22+297C>T	NP_001303696.1:n.-22+297C>T
NM_145277.4:c.92C>T	NP_660320.3:p.Ala31Val
NM_202004.3:c.-22+297C>T	NP_973733.1:n.-22+297C>T
NM_213652.3:c.-21-701C>T	NP_998817.1:n.-21-701C>T
NM_213653.3:c.431C>T	NP_998818.1:p.Ala144Val
XM_005272932.1:c.431C>T	XP_005272989.1:p.Ala144Val
NM_001316767.2:c.-22+297C>T	NP_001303696.1:n.-22+297C>T
NM_145277.5:c.92C>T	NP_660320.3:p.Ala31Val
NM_202004.4:c.-22+297C>T	NP_973733.1:n.-22+297C>T
NM_213652.4:c.-21-701C>T	NP_998817.1:n.-21-701C>T
NM_001379352.1:c.431C>T	NP_001366281.1:p.Ala144Val
NM_213653.4:c.431C>T MANE Select	NP_998818.1:p.Ala144Val