Canonical Allele Identifier: CA1053969

Gene: HJV

Linked Data

• ClinVar Variation Id: 1621228
• ClinVar RCV Id: RCV002091926
• dbSNP Id: rs782803011
• ExAC: 1:145416808 C / A
• gnomAD v2: 1-145416808-C-A
• gnomAD v4: 1-146018205-G-T
• MyVariant Identifiers: chr1:g.145416808C>A (hg19) ; chr1:g.146018205G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146018205G>T , CM000663.2:g.146018205G>T	GRCh38
NC_000001.10:g.145416808C>A , CM000663.1:g.145416808C>A	GRCh37
NC_000001.9:g.144128165C>A	NCBI36
NG_011568.1:g.8618C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.1153C>A MANE Select	ENSP00000337014.5:p.Arg385=
ENST00000636675.1:c.475C>A	ENSP00000490072.1:p.Arg159=
ENST00000336751.10:c.1153C>A	ENSP00000337014.5:p.Arg385=
ENST00000357836.5:c.814C>A	ENSP00000350495.5:p.Arg272=
ENST00000475797.1:c.475C>A	ENSP00000425716.1:p.Arg159=
ENST00000497365.5:c.475C>A	ENSP00000421820.1:p.Arg159=
NM_001316767.1:c.475C>A	NP_001303696.1:p.Arg159=
NM_145277.4:c.814C>A	NP_660320.3:p.Arg272=
NM_202004.3:c.475C>A	NP_973733.1:p.Arg159=
NM_213652.3:c.475C>A	NP_998817.1:p.Arg159=
NM_213653.3:c.1153C>A	NP_998818.1:p.Arg385=
XM_005272932.1:c.1153C>A	XP_005272989.1:p.Arg385=
NM_001316767.2:c.475C>A	NP_001303696.1:p.Arg159=
NM_145277.5:c.814C>A	NP_660320.3:p.Arg272=
NM_202004.4:c.475C>A	NP_973733.1:p.Arg159=
NM_213652.4:c.475C>A	NP_998817.1:p.Arg159=
NM_001379352.1:c.1153C>A	NP_001366281.1:p.Arg385=
NM_213653.4:c.1153C>A MANE Select	NP_998818.1:p.Arg385=