Canonical Allele Identifier: CA6406054

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6355818T>C , CM000674.2:g.6355818T>C	GRCh38
NC_000012.11:g.6464984T>C , CM000674.1:g.6464984T>C	GRCh37
NC_000012.10:g.6335245T>C	NCBI36
NG_011945.1:g.26540A>G
NG_011945.2:g.26540A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.938A>G MANE Select	NP_001029.1:p.Asn313Ser
ENST00000228916.7:c.938A>G MANE Select	ENSP00000228916.2:p.Asn313Ser
NM_001038.5:c.938A>G	NP_001029.1:p.Asn313Ser
NM_001159575.1:c.1007A>G	NP_001153047.1:p.Asn336Ser
NM_001159575.2:c.1007A>G	NP_001153047.1:p.Asn336Ser
NM_001159576.1:c.1115A>G	NP_001153048.1:p.Asn372Ser
NM_001159576.2:c.1115A>G	NP_001153048.1:p.Asn372Ser
ENST00000228916.6:c.938A>G	ENSP00000228916.2:p.Asn313Ser
ENST00000338748.9:c.*9A>G	ENSP00000345028.5:n.*9A>G
ENST00000360168.7:c.1115A>G	ENSP00000353292.3:p.Asn372Ser
ENST00000396966.6:c.938A>G	ENSP00000380166.2:p.Asn313Ser
ENST00000536087.1:n.476A>G
ENST00000538979.5:n.347A>G
ENST00000540037.5:c.38A>G	ENSP00000440876.1:p.Asn13Ser
ENST00000541249.5:n.185A>G
ENST00000542966.1:n.420A>G
ENST00000543768.1:c.1007A>G	ENSP00000438739.1:p.Asn336Ser