Canonical Allele Identifier: CA1053833

Gene: HJV

Linked Data

• ClinVar Variation Id: 2189139
• ClinVar RCV Id: RCV002636722
• dbSNP Id: rs141216105
• ExAC: 1:145415669 G / C
• gnomAD v2: 1-145415669-G-C
• gnomAD v3: 1-146019344-C-G
• gnomAD v4: 1-146019344-C-G
• MyVariant Identifiers: chr1:g.145415669G>C (hg19) ; chr1:g.146019344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019344C>G , CM000663.2:g.146019344C>G	GRCh38
NC_000001.10:g.145415669G>C , CM000663.1:g.145415669G>C	GRCh37
NC_000001.9:g.144127026G>C	NCBI36
NG_011568.1:g.7479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.488G>C MANE Select	ENSP00000337014.5:p.Gly163Ala
ENST00000636675.1:c.-22+354G>C	ENSP00000490072.1:n.-22+354G>C
ENST00000336751.10:c.488G>C	ENSP00000337014.5:p.Gly163Ala
ENST00000357836.5:c.149G>C	ENSP00000350495.5:p.Gly50Ala
ENST00000475797.1:c.-21-644G>C	ENSP00000425716.1:n.-21-644G>C
ENST00000497365.5:c.-22+354G>C	ENSP00000421820.1:n.-22+354G>C
ENST00000634927.1:c.134+354G>C	ENSP00000489347.1:n.134+354G>C
NM_001316767.1:c.-22+354G>C	NP_001303696.1:n.-22+354G>C
NM_145277.4:c.149G>C	NP_660320.3:p.Gly50Ala
NM_202004.3:c.-22+354G>C	NP_973733.1:n.-22+354G>C
NM_213652.3:c.-21-644G>C	NP_998817.1:n.-21-644G>C
NM_213653.3:c.488G>C	NP_998818.1:p.Gly163Ala
XM_005272932.1:c.488G>C	XP_005272989.1:p.Gly163Ala
NM_001316767.2:c.-22+354G>C	NP_001303696.1:n.-22+354G>C
NM_145277.5:c.149G>C	NP_660320.3:p.Gly50Ala
NM_202004.4:c.-22+354G>C	NP_973733.1:n.-22+354G>C
NM_213652.4:c.-21-644G>C	NP_998817.1:n.-21-644G>C
NM_001379352.1:c.488G>C	NP_001366281.1:p.Gly163Ala
NM_213653.4:c.488G>C MANE Select	NP_998818.1:p.Gly163Ala