Canonical Allele Identifier: CA121309
Gene: NHS HGNC NCBI

Linked Data

ClinVar Variation Id: 11027
ClinVar RCV Id: RCV000011774
dbSNP Id: rs104894881
gnomAD v2: X-17393995-C-T
gnomAD v4: X-17375872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.17375872C>T , CM000685.2:g.17375872C>T GRCh38
NC_000023.10:g.17393995C>T , CM000685.1:g.17393995C>T GRCh37
NC_000023.9:g.17303916C>T NCBI36
NG_011553.2:g.5453C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000676302.1:c.115C>T MANE Select ENSP00000502262.1:p.Gln39Ter
ENST00000380060.7:c.115C>T ENSP00000369400.3:p.Gln39Ter
NM_001291867.1:c.115C>T NP_001278796.1:p.Gln39Ter
NM_198270.3:c.115C>T NP_938011.1:p.Gln39Ter
NM_001291867.2:c.115C>T MANE Select NP_001278796.1:p.Gln39Ter
NM_198270.4:c.115C>T NP_938011.1:p.Gln39Ter