Canonical Allele Identifier: CA120276
Gene: SCNN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 9270
ClinVar RCV Id: RCV000009852
dbSNP Id: rs61759860
gnomAD v4: 12-6374543-G-A
MyVariant Identifiers: chr12:g.6483709G>A (hg19) chr12:g.6374543G>A (hg38)
PubMed: PMID:19462466
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6374543G>A , CM000674.2:g.6374543G>A GRCh38
NC_000012.11:g.6483709G>A , CM000674.1:g.6483709G>A GRCh37
NC_000012.10:g.6353970G>A NCBI36
NG_011945.1:g.7815C>T
NG_033039.1:g.4176G>A
NG_011945.2:g.7815C>T
NG_033039.2:g.4176G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228916.7:c.241C>T MANE Select ENSP00000228916.2:p.Arg81Cys
ENST00000228916.6:c.241C>T ENSP00000228916.2:p.Arg81Cys
ENST00000338748.9:c.241C>T ENSP00000345028.5:p.Arg81Cys
ENST00000360168.7:c.418C>T ENSP00000353292.3:p.Arg140Cys
ENST00000396966.6:c.241C>T ENSP00000380166.2:p.Arg81Cys
ENST00000536176.1:n.322C>T
ENST00000536788.1:c.304C>T ENSP00000443434.1:p.Arg102Cys
ENST00000538957.1:n.513C>T
ENST00000538979.5:n.82+810C>T
ENST00000542260.1:n.506C>T
ENST00000542436.1:n.481C>T
ENST00000543585.1:n.377C>T
ENST00000543768.1:c.310C>T ENSP00000438739.1:p.Arg104Cys
ENST00000544882.1:n.245C>T
NM_001038.5:c.241C>T NP_001029.1:p.Arg81Cys
NM_001159575.1:c.310C>T NP_001153047.1:p.Arg104Cys
NM_001159576.1:c.418C>T NP_001153048.1:p.Arg140Cys
NM_001038.6:c.241C>T MANE Select NP_001029.1:p.Arg81Cys
NM_001159576.2:c.418C>T NP_001153048.1:p.Arg140Cys
NM_001159575.2:c.310C>T NP_001153047.1:p.Arg104Cys
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