Canonical Allele Identifier: CA252252
Gene: HJV HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.146018693A>T
GRCh37 chr1:g.145416320T>A
Revel Score:
ENST00000357836 0.910
ENST00000336751 (MANE Select) 0.910
gnomAD v2:
1:145416320 T / A
gnomAD v3:
1:146018693 A / T
gnomAD v4:
chr1-146018693-A-T
Joint Max Group AF 0.00004182 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00004091 (NFE)
ClinVar RCV:
RCV000002464
RCV001065184
ClinVar Variation:
2367
dbSNP:
74315325
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018693A>T , CM000663.2:g.146018693A>T GRCh38
NC_000001.10:g.145416320T>A , CM000663.1:g.145416320T>A GRCh37
NC_000001.9:g.144127677T>A NCBI36
NG_011568.1:g.8130T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336751.11:c.665T>A MANE Select ENSP00000337014.5:p.Ile222Asn
ENST00000636675.1:c.-14T>A ENSP00000490072.1:n.-14T>A
ENST00000336751.10:c.665T>A ENSP00000337014.5:p.Ile222Asn
ENST00000357836.5:c.326T>A ENSP00000350495.5:p.Ile109Asn
ENST00000475797.1:c.-14T>A ENSP00000425716.1:n.-14T>A
ENST00000497365.5:c.-14T>A ENSP00000421820.1:n.-14T>A
ENST00000634927.1:c.142T>A ENSP00000489347.1:p.Ser48Thr
NM_001316767.1:c.-14T>A NP_001303696.1:n.-14T>A
NM_145277.4:c.326T>A NP_660320.3:p.Ile109Asn
NM_202004.3:c.-14T>A NP_973733.1:n.-14T>A
NM_213652.3:c.-14T>A NP_998817.1:n.-14T>A
NM_213653.3:c.665T>A NP_998818.1:p.Ile222Asn
XM_005272932.1:c.665T>A XP_005272989.1:p.Ile222Asn
NM_001316767.2:c.-14T>A NP_001303696.1:n.-14T>A
NM_145277.5:c.326T>A NP_660320.3:p.Ile109Asn
NM_202004.4:c.-14T>A NP_973733.1:n.-14T>A
NM_213652.4:c.-14T>A NP_998817.1:n.-14T>A
NM_001379352.1:c.665T>A NP_001366281.1:p.Ile222Asn
NM_213653.4:c.665T>A MANE Select NP_998818.1:p.Ile222Asn
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