Canonical Allele Identifier: CA231331
Gene: NHS HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.17726153G>A
GRCh37 chrX:g.17744273G>A
Revel Score:
ENST00000380060 0.058
ENST00000398097 0.058
ENST00000380057 0.058
gnomAD v2:
X:17744273 G / A
gnomAD v3:
X:17726153 G / A
gnomAD v4:
chrX-17726153-G-A
Joint Max Group AF 0.00029058 (SAS)
Genomes Max Group AF 0.00002573 (AFR)
Exomes Max Group AF 0.00028973 (SAS)
ClinVar RCV:
RCV000117787
RCV003621503
ClinVar Variation:
129772
dbSNP:
587780403
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17726153G>A , CM000685.2:g.17726153G>A GRCh38
NC_000023.10:g.17744273G>A , CM000685.1:g.17744273G>A GRCh37
NC_000023.9:g.17654194G>A NCBI36
NG_011553.2:g.355734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000615422.2:n.2442G>A
ENST00000690608.1:n.1004G>A
ENST00000676302.1:c.2047G>A MANE Select ENSP00000502262.1:p.Val683Met
ENST00000380060.7:c.1984G>A ENSP00000369400.3:p.Val662Met
ENST00000398097.7:c.1516G>A ENSP00000381170.3:p.Val506Met
ENST00000615422.1:c.1507G>A ENSP00000480113.1:p.Val503Met
ENST00000617601.4:c.1435G>A ENSP00000478433.1:p.Val479Met
NM_001136024.3:c.1516G>A NP_001129496.1:p.Val506Met
NM_001291867.1:c.2047G>A NP_001278796.1:p.Val683Met
NM_001291868.1:c.1453G>A NP_001278797.1:p.Val485Met
NM_198270.3:c.1984G>A NP_938011.1:p.Val662Met
XM_011545528.1:c.1099G>A XP_011543830.1:p.Val367Met
XM_011545528.2:c.1099G>A XP_011543830.1:p.Val367Met
NM_001136024.4:c.1516G>A NP_001129496.1:p.Val506Met
NM_001291867.2:c.2047G>A MANE Select NP_001278796.1:p.Val683Met
NM_001291868.2:c.1453G>A NP_001278797.1:p.Val485Met
NM_198270.4:c.1984G>A NP_938011.1:p.Val662Met
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