Canonical Allele Identifier: CA342139630

Gene: HJV

Linked Data

• ClinVar Variation Id: 2692104
• ClinVar RCV Id: RCV003494301
• dbSNP Id: rs1553769646
• gnomAD v2: 1-145415707-C-T
• gnomAD v4: 1-146019306-G-A
• COSMIC: COSM1667886
• MyVariant Identifiers: chr1:g.145415707C>T (hg19) ; chr1:g.146019306G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019306G>A , CM000663.2:g.146019306G>A	GRCh38
NC_000001.10:g.145415707C>T , CM000663.1:g.145415707C>T	GRCh37
NC_000001.9:g.144127064C>T	NCBI36
NG_011568.1:g.7517C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.526C>T MANE Select	ENSP00000337014.5:p.Arg176Cys
ENST00000636675.1:c.-22+392C>T	ENSP00000490072.1:n.-22+392C>T
ENST00000336751.10:c.526C>T	ENSP00000337014.5:p.Arg176Cys
ENST00000357836.5:c.187C>T	ENSP00000350495.5:p.Arg63Cys
ENST00000475797.1:c.-21-606C>T	ENSP00000425716.1:n.-21-606C>T
ENST00000497365.5:c.-22+392C>T	ENSP00000421820.1:n.-22+392C>T
ENST00000634927.1:c.134+392C>T	ENSP00000489347.1:n.134+392C>T
NM_001316767.1:c.-22+392C>T	NP_001303696.1:n.-22+392C>T
NM_145277.4:c.187C>T	NP_660320.3:p.Arg63Cys
NM_202004.3:c.-22+392C>T	NP_973733.1:n.-22+392C>T
NM_213652.3:c.-21-606C>T	NP_998817.1:n.-21-606C>T
NM_213653.3:c.526C>T	NP_998818.1:p.Arg176Cys
XM_005272932.1:c.526C>T	XP_005272989.1:p.Arg176Cys
NM_001316767.2:c.-22+392C>T	NP_001303696.1:n.-22+392C>T
NM_145277.5:c.187C>T	NP_660320.3:p.Arg63Cys
NM_202004.4:c.-22+392C>T	NP_973733.1:n.-22+392C>T
NM_213652.4:c.-21-606C>T	NP_998817.1:n.-21-606C>T
NM_001379352.1:c.526C>T	NP_001366281.1:p.Arg176Cys
NM_213653.4:c.526C>T MANE Select	NP_998818.1:p.Arg176Cys