Canonical Allele Identifier: CA29825491

Gene: HJV

Linked Data

• ClinVar Variation Id: 2150506
• ClinVar RCV Id: RCV003067602
• dbSNP Id: rs903023120
• MyVariant Identifiers: chr1:g.145415325G>C (hg19) ; chr1:g.146019688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019688C>G , CM000663.2:g.146019688C>G	GRCh38
NC_000001.10:g.145415325G>C , CM000663.1:g.145415325G>C	GRCh37
NC_000001.9:g.144126682G>C	NCBI36
NG_011568.1:g.7135G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.144G>C MANE Select	ENSP00000337014.5:p.Ser48=
ENST00000636675.1:c.-22+10G>C	ENSP00000490072.1:n.-22+10G>C
ENST00000336751.10:c.144G>C	ENSP00000337014.5:p.Ser48=
ENST00000357836.5:c.-196G>C	ENSP00000350495.5:n.-196G>C
ENST00000421822.2:c.144G>C	ENSP00000411863.2:p.Ser48=
ENST00000475797.1:c.-21-988G>C	ENSP00000425716.1:n.-21-988G>C
ENST00000497365.5:c.-22+10G>C	ENSP00000421820.1:n.-22+10G>C
ENST00000634927.1:c.134+10G>C	ENSP00000489347.1:n.134+10G>C
NM_001316767.1:c.-22+10G>C	NP_001303696.1:n.-22+10G>C
NM_145277.4:c.-196G>C	NP_660320.3:n.-196G>C
NM_202004.3:c.-22+10G>C	NP_973733.1:n.-22+10G>C
NM_213652.3:c.-21-988G>C	NP_998817.1:n.-21-988G>C
NM_213653.3:c.144G>C	NP_998818.1:p.Ser48=
XM_005272932.1:c.144G>C	XP_005272989.1:p.Ser48=
NM_001316767.2:c.-22+10G>C	NP_001303696.1:n.-22+10G>C
NM_145277.5:c.-196G>C	NP_660320.3:n.-196G>C
NM_202004.4:c.-22+10G>C	NP_973733.1:n.-22+10G>C
NM_213652.4:c.-21-988G>C	NP_998817.1:n.-21-988G>C
NM_001379352.1:c.144G>C	NP_001366281.1:p.Ser48=
NM_213653.4:c.144G>C MANE Select	NP_998818.1:p.Ser48=