Canonical Allele Identifier: CA342138927

Gene: HJV

Linked Data

• ClinVar Variation Id: 2722952
• ClinVar RCV Id: RCV003559156
• dbSNP Id: rs1373621339
• gnomAD v2: 1-145415786-A-G
• gnomAD v4: 1-146019227-T-C
• MyVariant Identifiers: chr1:g.145415786A>G (hg19) ; chr1:g.146019227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019227T>C , CM000663.2:g.146019227T>C	GRCh38
NC_000001.10:g.145415786A>G , CM000663.1:g.145415786A>G	GRCh37
NC_000001.9:g.144127143A>G	NCBI36
NG_011568.1:g.7596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.605A>G MANE Select	ENSP00000337014.5:p.Gln202Arg
ENST00000636675.1:c.-22+471A>G	ENSP00000490072.1:n.-22+471A>G
ENST00000336751.10:c.605A>G	ENSP00000337014.5:p.Gln202Arg
ENST00000357836.5:c.266A>G	ENSP00000350495.5:p.Gln89Arg
ENST00000475797.1:c.-21-527A>G	ENSP00000425716.1:n.-21-527A>G
ENST00000497365.5:c.-22+471A>G	ENSP00000421820.1:n.-22+471A>G
ENST00000634927.1:c.134+471A>G	ENSP00000489347.1:n.134+471A>G
NM_001316767.1:c.-22+471A>G	NP_001303696.1:n.-22+471A>G
NM_145277.4:c.266A>G	NP_660320.3:p.Gln89Arg
NM_202004.3:c.-22+471A>G	NP_973733.1:n.-22+471A>G
NM_213652.3:c.-21-527A>G	NP_998817.1:n.-21-527A>G
NM_213653.3:c.605A>G	NP_998818.1:p.Gln202Arg
XM_005272932.1:c.605A>G	XP_005272989.1:p.Gln202Arg
NM_001316767.2:c.-22+471A>G	NP_001303696.1:n.-22+471A>G
NM_145277.5:c.266A>G	NP_660320.3:p.Gln89Arg
NM_202004.4:c.-22+471A>G	NP_973733.1:n.-22+471A>G
NM_213652.4:c.-21-527A>G	NP_998817.1:n.-21-527A>G
NM_001379352.1:c.605A>G	NP_001366281.1:p.Gln202Arg
NM_213653.4:c.605A>G MANE Select	NP_998818.1:p.Gln202Arg