Canonical Allele Identifier: CA383559372

Gene: SCNN1A

Linked Data

• gnomAD v4: 12-6374452-C-A
• MyVariant Identifiers: chr12:g.6483618C>A (hg19) ; chr12:g.6374452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374452C>A , CM000674.2:g.6374452C>A	GRCh38
NC_000012.11:g.6483618C>A , CM000674.1:g.6483618C>A	GRCh37
NC_000012.10:g.6353879C>A	NCBI36
NG_011945.1:g.7906G>T
NG_033039.1:g.4085C>A
NG_011945.2:g.7906G>T
NG_033039.2:g.4085C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000228916.7:c.332G>T MANE Select	ENSP00000228916.2:p.Ser111Ile
ENST00000228916.6:c.332G>T	ENSP00000228916.2:p.Ser111Ile
ENST00000338748.9:c.332G>T	ENSP00000345028.5:p.Ser111Ile
ENST00000360168.7:c.509G>T	ENSP00000353292.3:p.Ser170Ile
ENST00000396966.6:c.332G>T	ENSP00000380166.2:p.Ser111Ile
ENST00000536176.1:n.413G>T
ENST00000536788.1:c.395G>T	ENSP00000443434.1:p.Ser132Ile
ENST00000538979.5:n.82+901G>T
ENST00000542260.1:n.597G>T
ENST00000543585.1:n.468G>T
ENST00000543768.1:c.401G>T	ENSP00000438739.1:p.Ser134Ile
ENST00000544882.1:n.336G>T
NM_001038.5:c.332G>T	NP_001029.1:p.Ser111Ile
NM_001159575.1:c.401G>T	NP_001153047.1:p.Ser134Ile
NM_001159576.1:c.509G>T	NP_001153048.1:p.Ser170Ile
NM_001038.6:c.332G>T MANE Select	NP_001029.1:p.Ser111Ile
NM_001159576.2:c.509G>T	NP_001153048.1:p.Ser170Ile
NM_001159575.2:c.401G>T	NP_001153047.1:p.Ser134Ile