Canonical Allele Identifier: CA121306
Gene: NHS HGNC NCBI

Linked Data

ClinVar Variation Id: 11025
dbSNP Id: rs132630322
gnomAD v4: X-17724370-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17724370C>T , CM000685.2:g.17724370C>T GRCh38
NC_000023.10:g.17742490C>T , CM000685.1:g.17742490C>T GRCh37
NC_000023.9:g.17652411C>T NCBI36
NG_011553.2:g.353951C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000615422.2:n.1575C>T
ENST00000690213.1:n.3060C>T
ENST00000676302.1:c.1180C>T MANE Select ENSP00000502262.1:p.Arg394Ter
ENST00000380060.7:c.1117C>T ENSP00000369400.3:p.Arg373Ter
ENST00000398097.7:c.649C>T ENSP00000381170.3:p.Arg217Ter
ENST00000485305.1:n.409C>T
ENST00000615422.1:c.640C>T ENSP00000480113.1:p.Arg214Ter
ENST00000617601.4:c.568C>T ENSP00000478433.1:p.Arg190Ter
NM_001136024.3:c.649C>T NP_001129496.1:p.Arg217Ter
NM_001291867.1:c.1180C>T NP_001278796.1:p.Arg394Ter
NM_001291868.1:c.586C>T NP_001278797.1:p.Arg196Ter
NM_198270.3:c.1117C>T NP_938011.1:p.Arg373Ter
XM_011545528.1:c.232C>T XP_011543830.1:p.Arg78Ter
XM_011545528.2:c.232C>T XP_011543830.1:p.Arg78Ter
NM_001136024.4:c.649C>T NP_001129496.1:p.Arg217Ter
NM_001291867.2:c.1180C>T MANE Select NP_001278796.1:p.Arg394Ter
NM_001291868.2:c.586C>T NP_001278797.1:p.Arg196Ter
NM_198270.4:c.1117C>T NP_938011.1:p.Arg373Ter