Canonical Allele Identifier: CA1053732

Gene: HJV

Linked Data

• ClinVar Variation Id: 1132496
• ClinVar RCV Id: RCV001466771
• dbSNP Id: rs781897938
• ExAC: 1:145414874 A / G
• gnomAD v2: 1-145414874-A-G
• gnomAD v4: 1-146020139-T-C
• MyVariant Identifiers: chr1:g.145414874A>G (hg19) ; chr1:g.146020139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146020139T>C , CM000663.2:g.146020139T>C	GRCh38
NC_000001.10:g.145414874A>G , CM000663.1:g.145414874A>G	GRCh37
NC_000001.9:g.144126231A>G	NCBI36
NG_011568.1:g.6684A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.93A>G MANE Select	ENSP00000337014.5:p.Gly31=
ENST00000636675.1:c.-58-405A>G	ENSP00000490072.1:n.-58-405A>G
ENST00000336751.10:c.93A>G	ENSP00000337014.5:p.Gly31=
ENST00000357836.5:c.-242-405A>G	ENSP00000350495.5:n.-242-405A>G
ENST00000421822.2:c.93A>G	ENSP00000411863.2:p.Gly31=
ENST00000475797.1:c.-21-1439A>G	ENSP00000425716.1:n.-21-1439A>G
ENST00000497365.5:c.-58-405A>G	ENSP00000421820.1:n.-58-405A>G
ENST00000634927.1:c.93A>G	ENSP00000489347.1:p.Gly31=
NM_001316767.1:c.-63A>G	NP_001303696.1:n.-63A>G
NM_145277.4:c.-242-405A>G	NP_660320.3:n.-242-405A>G
NM_202004.3:c.-58-405A>G	NP_973733.1:n.-58-405A>G
NM_213652.3:c.-21-1439A>G	NP_998817.1:n.-21-1439A>G
NM_213653.3:c.93A>G	NP_998818.1:p.Gly31=
XM_005272932.1:c.93A>G	XP_005272989.1:p.Gly31=
NM_001316767.2:c.-63A>G	NP_001303696.1:n.-63A>G
NM_145277.5:c.-242-405A>G	NP_660320.3:n.-242-405A>G
NM_202004.4:c.-58-405A>G	NP_973733.1:n.-58-405A>G
NM_213652.4:c.-21-1439A>G	NP_998817.1:n.-21-1439A>G
NM_001379352.1:c.93A>G	NP_001366281.1:p.Gly31=
NM_213653.4:c.93A>G MANE Select	NP_998818.1:p.Gly31=