Canonical Allele Identifier: CA349439

Gene: HJV

Linked Data

• ClinVar Variation Id: 220478
• ClinVar RCV Id: RCV000205262 ; RCV001098383
• dbSNP Id: rs12025510
• ExAC: 1:145414790 G / C
• gnomAD v2: 1-145414790-G-C
• gnomAD v3: 1-146020223-C-G
• gnomAD v4: 1-146020223-C-G
• MyVariant Identifiers: chr1:g.145414790G>C (hg19) ; chr1:g.146020223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146020223C>G , CM000663.2:g.146020223C>G	GRCh38
NC_000001.10:g.145414790G>C , CM000663.1:g.145414790G>C	GRCh37
NC_000001.9:g.144126147G>C	NCBI36
NG_011568.1:g.6600G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.9G>C MANE Select	ENSP00000337014.5:p.Glu3Asp
ENST00000636675.1:c.-58-489G>C	ENSP00000490072.1:n.-58-489G>C
ENST00000336751.10:c.9G>C	ENSP00000337014.5:p.Glu3Asp
ENST00000357836.5:c.-242-489G>C	ENSP00000350495.5:n.-242-489G>C
ENST00000421822.2:c.9G>C	ENSP00000411863.2:p.Glu3Asp
ENST00000475797.1:c.-22+1364G>C	ENSP00000425716.1:n.-22+1364G>C
ENST00000497365.5:c.-58-489G>C	ENSP00000421820.1:n.-58-489G>C
ENST00000634927.1:c.9G>C	ENSP00000489347.1:p.Glu3Asp
NM_001316767.1:c.-147G>C	NP_001303696.1:n.-147G>C
NM_145277.4:c.-242-489G>C	NP_660320.3:n.-242-489G>C
NM_202004.3:c.-58-489G>C	NP_973733.1:n.-58-489G>C
NM_213652.3:c.-22+1364G>C	NP_998817.1:n.-22+1364G>C
NM_213653.3:c.9G>C	NP_998818.1:p.Glu3Asp
XM_005272932.1:c.9G>C	XP_005272989.1:p.Glu3Asp
NM_001316767.2:c.-147G>C	NP_001303696.1:n.-147G>C
NM_145277.5:c.-242-489G>C	NP_660320.3:n.-242-489G>C
NM_202004.4:c.-58-489G>C	NP_973733.1:n.-58-489G>C
NM_213652.4:c.-22+1364G>C	NP_998817.1:n.-22+1364G>C
NM_001379352.1:c.9G>C	NP_001366281.1:p.Glu3Asp
NM_213653.4:c.9G>C MANE Select	NP_998818.1:p.Glu3Asp