Canonical Allele Identifier: CA1053955
Gene: HJV HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.146018307G>A
GRCh37 chr1:g.145416706C>T
Revel Score:
ENST00000357836 0.503
ENST00000336751 (MANE Select) 0.503
ENST00000497365 0.503
ENST00000475797 0.503
gnomAD v2:
1:145416706 C / T
gnomAD v3:
1:146018307 G / A
gnomAD v4:
chr1-146018307-G-A
Joint Max Group AF 0.00000442 (AFR)
Genomes Max Group AF 0.00000798 (AFR)
ClinVar RCV:
RCV004399473
ClinVar Variation:
3106083
dbSNP:
587743847
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018307G>A , CM000663.2:g.146018307G>A GRCh38
NC_000001.10:g.145416706C>T , CM000663.1:g.145416706C>T GRCh37
NC_000001.9:g.144128063C>T NCBI36
NG_011568.1:g.8516C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.1051C>T MANE Select ENSP00000337014.5:p.Leu351Phe
ENST00000636675.1:c.373C>T ENSP00000490072.1:p.Leu125Phe
ENST00000336751.10:c.1051C>T ENSP00000337014.5:p.Leu351Phe
ENST00000357836.5:c.712C>T ENSP00000350495.5:p.Leu238Phe
ENST00000475797.1:c.373C>T ENSP00000425716.1:p.Leu125Phe
ENST00000497365.5:c.373C>T ENSP00000421820.1:p.Leu125Phe
NM_001316767.1:c.373C>T NP_001303696.1:p.Leu125Phe
NM_145277.4:c.712C>T NP_660320.3:p.Leu238Phe
NM_202004.3:c.373C>T NP_973733.1:p.Leu125Phe
NM_213652.3:c.373C>T NP_998817.1:p.Leu125Phe
NM_213653.3:c.1051C>T NP_998818.1:p.Leu351Phe
XM_005272932.1:c.1051C>T XP_005272989.1:p.Leu351Phe
NM_001316767.2:c.373C>T NP_001303696.1:p.Leu125Phe
NM_145277.5:c.712C>T NP_660320.3:p.Leu238Phe
NM_202004.4:c.373C>T NP_973733.1:p.Leu125Phe
NM_213652.4:c.373C>T NP_998817.1:p.Leu125Phe
NM_001379352.1:c.1051C>T NP_001366281.1:p.Leu351Phe
NM_213653.4:c.1051C>T MANE Select NP_998818.1:p.Leu351Phe
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