Canonical Allele Identifier: CA204863
Gene: NHS HGNC NCBI

Linked Data

ClinVar Variation Id: 208770
dbSNP Id: rs372969054
gnomAD v2: X-17742485-G-A
gnomAD v3: X-17724365-G-A
gnomAD v4: X-17724365-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17724365G>A , CM000685.2:g.17724365G>A GRCh38
NC_000023.10:g.17742485G>A , CM000685.1:g.17742485G>A GRCh37
NC_000023.9:g.17652406G>A NCBI36
NG_011553.2:g.353946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000615422.2:n.1570G>A
ENST00000690213.1:n.3055G>A
ENST00000676302.1:c.1175G>A MANE Select ENSP00000502262.1:p.Arg392Gln
ENST00000380060.7:c.1112G>A ENSP00000369400.3:p.Arg371Gln
ENST00000398097.7:c.644G>A ENSP00000381170.3:p.Arg215Gln
ENST00000485305.1:n.404G>A
ENST00000615422.1:c.635G>A ENSP00000480113.1:p.Arg212Gln
ENST00000617601.4:c.563G>A ENSP00000478433.1:p.Arg188Gln
NM_001136024.3:c.644G>A NP_001129496.1:p.Arg215Gln
NM_001291867.1:c.1175G>A NP_001278796.1:p.Arg392Gln
NM_001291868.1:c.581G>A NP_001278797.1:p.Arg194Gln
NM_198270.3:c.1112G>A NP_938011.1:p.Arg371Gln
XM_011545528.1:c.227G>A XP_011543830.1:p.Arg76Gln
XM_011545528.2:c.227G>A XP_011543830.1:p.Arg76Gln
NM_001136024.4:c.644G>A NP_001129496.1:p.Arg215Gln
NM_001291867.2:c.1175G>A MANE Select NP_001278796.1:p.Arg392Gln
NM_001291868.2:c.581G>A NP_001278797.1:p.Arg194Gln
NM_198270.4:c.1112G>A NP_938011.1:p.Arg371Gln