Canonical Allele Identifier: CA1053929
Gene: HJV HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.146018395G>C
GRCh37 chr1:g.145416618C>G
Revel Score:
ENST00000357836 0.757
ENST00000336751 (MANE Select) 0.757
ENST00000497365 0.757
ENST00000475797 0.757
gnomAD v2:
1:145416618 C / G
gnomAD v3:
1:146018395 G / C
gnomAD v4:
chr1-146018395-G-C
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018395G>C , CM000663.2:g.146018395G>C GRCh38
NC_000001.10:g.145416618C>G , CM000663.1:g.145416618C>G GRCh37
NC_000001.9:g.144127975C>G NCBI36
NG_011568.1:g.8428C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.963C>G MANE Select ENSP00000337014.5:p.Cys321Trp
ENST00000636675.1:c.285C>G ENSP00000490072.1:p.Cys95Trp
ENST00000336751.10:c.963C>G ENSP00000337014.5:p.Cys321Trp
ENST00000357836.5:c.624C>G ENSP00000350495.5:p.Cys208Trp
ENST00000475797.1:c.285C>G ENSP00000425716.1:p.Cys95Trp
ENST00000497365.5:c.285C>G ENSP00000421820.1:p.Cys95Trp
NM_001316767.1:c.285C>G NP_001303696.1:p.Cys95Trp
NM_145277.4:c.624C>G NP_660320.3:p.Cys208Trp
NM_202004.3:c.285C>G NP_973733.1:p.Cys95Trp
NM_213652.3:c.285C>G NP_998817.1:p.Cys95Trp
NM_213653.3:c.963C>G NP_998818.1:p.Cys321Trp
XM_005272932.1:c.963C>G XP_005272989.1:p.Cys321Trp
NM_001316767.2:c.285C>G NP_001303696.1:p.Cys95Trp
NM_145277.5:c.624C>G NP_660320.3:p.Cys208Trp
NM_202004.4:c.285C>G NP_973733.1:p.Cys95Trp
NM_213652.4:c.285C>G NP_998817.1:p.Cys95Trp
NM_001379352.1:c.963C>G NP_001366281.1:p.Cys321Trp
NM_213653.4:c.963C>G MANE Select NP_998818.1:p.Cys321Trp
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