Canonical Allele Identifier: CA383554439
Gene: SCNN1A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6349405C>T
GRCh37 chr12:g.6458571C>T
Revel Score:
ENST00000360168 0.532
ENST00000358945 0.532
ENST00000540037 0.532
ENST00000228916 (MANE Select) 0.532
ENST00000396966 0.532
ENST00000543768 0.532
gnomAD v3:
12:6349405 C / T
gnomAD v4:
chr12-6349405-C-T
Joint Max Group AF 0.00001991 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00001858 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6349405C>T , CM000674.2:g.6349405C>T GRCh38
NC_000012.11:g.6458571C>T , CM000674.1:g.6458571C>T GRCh37
NC_000012.10:g.6328832C>T NCBI36
NG_011945.1:g.32953G>A
NG_011945.2:g.32953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000228916.7:c.1361G>A MANE Select ENSP00000228916.2:p.Gly454Glu
ENST00000228916.6:c.1361G>A ENSP00000228916.2:p.Gly454Glu
ENST00000338748.9:c.*432G>A ENSP00000345028.5:n.*432G>A
ENST00000360168.7:c.1538G>A ENSP00000353292.3:p.Gly513Glu
ENST00000396966.6:c.1361G>A ENSP00000380166.2:p.Gly454Glu
ENST00000457871.2:n.308G>A
ENST00000540037.5:c.461G>A ENSP00000440876.1:p.Gly154Glu
ENST00000543768.1:c.1430G>A ENSP00000438739.1:p.Gly477Glu
NM_001038.5:c.1361G>A NP_001029.1:p.Gly454Glu
NM_001159575.1:c.1430G>A NP_001153047.1:p.Gly477Glu
NM_001159576.1:c.1538G>A NP_001153048.1:p.Gly513Glu
XR_001748982.1:n.87+1138C>T
XR_001748983.1:n.87+1138C>T
XR_001748984.1:n.87+1138C>T
NM_001038.6:c.1361G>A MANE Select NP_001029.1:p.Gly454Glu
NM_001159576.2:c.1538G>A NP_001153048.1:p.Gly513Glu
NM_001159575.2:c.1430G>A NP_001153047.1:p.Gly477Glu
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