Canonical Allele Identifier: CA342142366

Gene: HJV

Linked Data

• ClinVar Variation Id: 1423659
• ClinVar RCV Id: RCV001928994
• dbSNP Id: rs1475264827
• gnomAD v4: 1-146019501-C-A
• MyVariant Identifiers: chr1:g.145415512G>T (hg19) ; chr1:g.146019501C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019501C>A , CM000663.2:g.146019501C>A	GRCh38
NC_000001.10:g.145415512G>T , CM000663.1:g.145415512G>T	GRCh37
NC_000001.9:g.144126869G>T	NCBI36
NG_011568.1:g.7322G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000336751.11:c.331G>T MANE Select	ENSP00000337014.5:p.Glu111Ter
ENST00000636675.1:c.-22+197G>T	ENSP00000490072.1:n.-22+197G>T
ENST00000336751.10:c.331G>T	ENSP00000337014.5:p.Glu111Ter
ENST00000357836.5:c.-9G>T	ENSP00000350495.5:n.-9G>T
ENST00000475797.1:c.-21-801G>T	ENSP00000425716.1:n.-21-801G>T
ENST00000497365.5:c.-22+197G>T	ENSP00000421820.1:n.-22+197G>T
ENST00000634927.1:c.134+197G>T	ENSP00000489347.1:n.134+197G>T
NM_001316767.1:c.-22+197G>T	NP_001303696.1:n.-22+197G>T
NM_145277.4:c.-9G>T	NP_660320.3:n.-9G>T
NM_202004.3:c.-22+197G>T	NP_973733.1:n.-22+197G>T
NM_213652.3:c.-21-801G>T	NP_998817.1:n.-21-801G>T
NM_213653.3:c.331G>T	NP_998818.1:p.Glu111Ter
XM_005272932.1:c.331G>T	XP_005272989.1:p.Glu111Ter
NM_001316767.2:c.-22+197G>T	NP_001303696.1:n.-22+197G>T
NM_145277.5:c.-9G>T	NP_660320.3:n.-9G>T
NM_202004.4:c.-22+197G>T	NP_973733.1:n.-22+197G>T
NM_213652.4:c.-21-801G>T	NP_998817.1:n.-21-801G>T
NM_001379352.1:c.331G>T	NP_001366281.1:p.Glu111Ter
NM_213653.4:c.331G>T MANE Select	NP_998818.1:p.Glu111Ter