Canonical Allele Identifier: CA383559374

Gene: SCNN1A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.332G>A MANE Select	ENSP00000228916.2:p.Ser111Asn
ENST00000228916.6:c.332G>A	ENSP00000228916.2:p.Ser111Asn
ENST00000338748.9:c.332G>A	ENSP00000345028.5:p.Ser111Asn
ENST00000360168.7:c.509G>A	ENSP00000353292.3:p.Ser170Asn
ENST00000396966.6:c.332G>A	ENSP00000380166.2:p.Ser111Asn
ENST00000536176.1:n.413G>A
ENST00000536788.1:c.395G>A	ENSP00000443434.1:p.Ser132Asn
ENST00000538979.5:n.82+901G>A
ENST00000542260.1:n.597G>A
ENST00000543585.1:n.468G>A
ENST00000543768.1:c.401G>A	ENSP00000438739.1:p.Ser134Asn
ENST00000544882.1:n.336G>A
NM_001038.5:c.332G>A	NP_001029.1:p.Ser111Asn
NM_001159575.1:c.401G>A	NP_001153047.1:p.Ser134Asn
NM_001159576.1:c.509G>A	NP_001153048.1:p.Ser170Asn
NM_001038.6:c.332G>A MANE Select	NP_001029.1:p.Ser111Asn
NM_001159576.2:c.509G>A	NP_001153048.1:p.Ser170Asn
NM_001159575.2:c.401G>A	NP_001153047.1:p.Ser134Asn