Canonical Allele Identifier: CA342141423

Gene: HJV

Linked Data

• ClinVar Variation Id: 2175673
• ClinVar RCV Id: RCV002579409
• dbSNP Id: rs782138530
• gnomAD v3: 1-146019418-C-G
• gnomAD v4: 1-146019418-C-G
• MyVariant Identifiers: chr1:g.145415595G>C (hg19) ; chr1:g.146019418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019418C>G , CM000663.2:g.146019418C>G	GRCh38
NC_000001.10:g.145415595G>C , CM000663.1:g.145415595G>C	GRCh37
NC_000001.9:g.144126952G>C	NCBI36
NG_011568.1:g.7405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.414G>C MANE Select	ENSP00000337014.5:p.Ala138=
ENST00000636675.1:c.-22+280G>C	ENSP00000490072.1:n.-22+280G>C
ENST00000336751.10:c.414G>C	ENSP00000337014.5:p.Ala138=
ENST00000357836.5:c.75G>C	ENSP00000350495.5:p.Ala25=
ENST00000475797.1:c.-21-718G>C	ENSP00000425716.1:n.-21-718G>C
ENST00000497365.5:c.-22+280G>C	ENSP00000421820.1:n.-22+280G>C
ENST00000634927.1:c.134+280G>C	ENSP00000489347.1:n.134+280G>C
NM_001316767.1:c.-22+280G>C	NP_001303696.1:n.-22+280G>C
NM_145277.4:c.75G>C	NP_660320.3:p.Ala25=
NM_202004.3:c.-22+280G>C	NP_973733.1:n.-22+280G>C
NM_213652.3:c.-21-718G>C	NP_998817.1:n.-21-718G>C
NM_213653.3:c.414G>C	NP_998818.1:p.Ala138=
XM_005272932.1:c.414G>C	XP_005272989.1:p.Ala138=
NM_001316767.2:c.-22+280G>C	NP_001303696.1:n.-22+280G>C
NM_145277.5:c.75G>C	NP_660320.3:p.Ala25=
NM_202004.4:c.-22+280G>C	NP_973733.1:n.-22+280G>C
NM_213652.4:c.-21-718G>C	NP_998817.1:n.-21-718G>C
NM_001379352.1:c.414G>C	NP_001366281.1:p.Ala138=
NM_213653.4:c.414G>C MANE Select	NP_998818.1:p.Ala138=