Canonical Allele Identifier: CA1053925
Gene: HJV HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.146018402C>G
GRCh37 chr1:g.145416611G>C
Revel Score:
ENST00000357836 0.253
ENST00000336751 (MANE Select) 0.253
ENST00000497365 0.253
ENST00000475797 0.253
gnomAD v2:
1:145416611 G / C
gnomAD v3:
1:146018402 C / G
gnomAD v4:
chr1-146018402-C-G
Joint Max Group AF 0.00006233 (AFR)
Genomes Max Group AF 0.00003248 (AFR)
Exomes Max Group AF 0.00005849 (AFR)
ClinVar RCV:
RCV004399485
ClinVar Variation:
3106095
dbSNP:
139243524
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018402C>G , CM000663.2:g.146018402C>G GRCh38
NC_000001.10:g.145416611G>C , CM000663.1:g.145416611G>C GRCh37
NC_000001.9:g.144127968G>C NCBI36
NG_011568.1:g.8421G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.956G>C MANE Select ENSP00000337014.5:p.Gly319Ala
ENST00000636675.1:c.278G>C ENSP00000490072.1:p.Gly93Ala
ENST00000336751.10:c.956G>C ENSP00000337014.5:p.Gly319Ala
ENST00000357836.5:c.617G>C ENSP00000350495.5:p.Gly206Ala
ENST00000475797.1:c.278G>C ENSP00000425716.1:p.Gly93Ala
ENST00000497365.5:c.278G>C ENSP00000421820.1:p.Gly93Ala
NM_001316767.1:c.278G>C NP_001303696.1:p.Gly93Ala
NM_145277.4:c.617G>C NP_660320.3:p.Gly206Ala
NM_202004.3:c.278G>C NP_973733.1:p.Gly93Ala
NM_213652.3:c.278G>C NP_998817.1:p.Gly93Ala
NM_213653.3:c.956G>C NP_998818.1:p.Gly319Ala
XM_005272932.1:c.956G>C XP_005272989.1:p.Gly319Ala
NM_001316767.2:c.278G>C NP_001303696.1:p.Gly93Ala
NM_145277.5:c.617G>C NP_660320.3:p.Gly206Ala
NM_202004.4:c.278G>C NP_973733.1:p.Gly93Ala
NM_213652.4:c.278G>C NP_998817.1:p.Gly93Ala
NM_001379352.1:c.956G>C NP_001366281.1:p.Gly319Ala
NM_213653.4:c.956G>C MANE Select NP_998818.1:p.Gly319Ala
Search 100 bp 5'
Search 100 bp 3'