Canonical Allele Identifier: CA1053852

Gene: HJV

Linked Data

• ClinVar Variation Id: 2568788
• ClinVar RCV Id: RCV004330904
• dbSNP Id: rs202180588
• ExAC: 1:145415773 T / G
• gnomAD v2: 1-145415773-T-G
• gnomAD v3: 1-146019240-A-C
• gnomAD v4: 1-146019240-A-C
• MyVariant Identifiers: chr1:g.145415773T>G (hg19) ; chr1:g.146019240A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.146019240A>C , CM000663.2:g.146019240A>C	GRCh38
NC_000001.10:g.145415773T>G , CM000663.1:g.145415773T>G	GRCh37
NC_000001.9:g.144127130T>G	NCBI36
NG_011568.1:g.7583T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336751.11:c.592T>G MANE Select	ENSP00000337014.5:p.Phe198Val
ENST00000636675.1:c.-22+458T>G	ENSP00000490072.1:n.-22+458T>G
ENST00000336751.10:c.592T>G	ENSP00000337014.5:p.Phe198Val
ENST00000357836.5:c.253T>G	ENSP00000350495.5:p.Phe85Val
ENST00000475797.1:c.-21-540T>G	ENSP00000425716.1:n.-21-540T>G
ENST00000497365.5:c.-22+458T>G	ENSP00000421820.1:n.-22+458T>G
ENST00000634927.1:c.134+458T>G	ENSP00000489347.1:n.134+458T>G
NM_001316767.1:c.-22+458T>G	NP_001303696.1:n.-22+458T>G
NM_145277.4:c.253T>G	NP_660320.3:p.Phe85Val
NM_202004.3:c.-22+458T>G	NP_973733.1:n.-22+458T>G
NM_213652.3:c.-21-540T>G	NP_998817.1:n.-21-540T>G
NM_213653.3:c.592T>G	NP_998818.1:p.Phe198Val
XM_005272932.1:c.592T>G	XP_005272989.1:p.Phe198Val
NM_001316767.2:c.-22+458T>G	NP_001303696.1:n.-22+458T>G
NM_145277.5:c.253T>G	NP_660320.3:p.Phe85Val
NM_202004.4:c.-22+458T>G	NP_973733.1:n.-22+458T>G
NM_213652.4:c.-21-540T>G	NP_998817.1:n.-21-540T>G
NM_001379352.1:c.592T>G	NP_001366281.1:p.Phe198Val
NM_213653.4:c.592T>G MANE Select	NP_998818.1:p.Phe198Val