Canonical Allele Identifier: CA6406085

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 450202
• ClinVar RCV Id: RCV000519225 ; RCV003227777
• dbSNP Id: rs142439390
• ExAC: 12:6471216 C / T
• gnomAD v2: 12-6471216-C-T
• gnomAD v3: 12-6362050-C-T
• gnomAD v4: 12-6362050-C-T
• MyVariant Identifiers: chr12:g.6471216C>T (hg19) ; chr12:g.6362050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6362050C>T , CM000674.2:g.6362050C>T	GRCh38
NC_000012.11:g.6471216C>T , CM000674.1:g.6471216C>T	GRCh37
NC_000012.10:g.6341477C>T	NCBI36
NG_011945.1:g.20308G>A
NG_011945.2:g.20308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.875+1G>A MANE Select	ENSP00000228916.2:n.875+1G>A
ENST00000228916.6:c.875+1G>A	ENSP00000228916.2:n.875+1G>A
ENST00000338748.9:c.684+1393G>A	ENSP00000345028.5:n.684+1393G>A
ENST00000360168.7:c.1052+1G>A	ENSP00000353292.3:n.1052+1G>A
ENST00000396966.6:c.875+1G>A	ENSP00000380166.2:n.875+1G>A
ENST00000538979.5:n.83-5656G>A
ENST00000540037.5:c.-26+18G>A	ENSP00000440876.1:n.-26+18G>A
ENST00000541249.5:n.122+1G>A
ENST00000542966.1:n.357+18G>A
ENST00000543768.1:c.944+1G>A	ENSP00000438739.1:n.944+1G>A
NM_001038.5:c.875+1G>A	NP_001029.1:n.875+1G>A
NM_001159575.1:c.944+1G>A	NP_001153047.1:n.944+1G>A
NM_001159576.1:c.1052+1G>A	NP_001153048.1:n.1052+1G>A
NM_001038.6:c.875+1G>A MANE Select	NP_001029.1:n.875+1G>A
NM_001159576.2:c.1052+1G>A	NP_001153048.1:n.1052+1G>A
NM_001159575.2:c.944+1G>A	NP_001153047.1:n.944+1G>A