Canonical Allele Identifier: CA6405776

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6348802T>C , CM000674.2:g.6348802T>C	GRCh38
NC_000012.11:g.6457968T>C , CM000674.1:g.6457968T>C	GRCh37
NC_000012.10:g.6328229T>C	NCBI36
NG_011945.1:g.33556A>G
NG_011945.2:g.33556A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.1554A>G MANE Select	NP_001029.1:p.Arg518=
ENST00000228916.7:c.1554A>G MANE Select	ENSP00000228916.2:p.Arg518=
NM_001038.5:c.1554A>G	NP_001029.1:p.Arg518=
NM_001159575.1:c.1623A>G	NP_001153047.1:p.Arg541=
NM_001159575.2:c.1623A>G	NP_001153047.1:p.Arg541=
NM_001159576.1:c.1731A>G	NP_001153048.1:p.Arg577=
NM_001159576.2:c.1731A>G	NP_001153048.1:p.Arg577=
ENST00000228916.6:c.1554A>G	ENSP00000228916.2:p.Arg518=
ENST00000338748.9:c.*625A>G	ENSP00000345028.5:n.*625A>G
ENST00000360168.7:c.1731A>G	ENSP00000353292.3:p.Arg577=
ENST00000396966.6:c.1496A>G	ENSP00000380166.2:p.Glu499Gly
ENST00000539953.1:n.155A>G
ENST00000540037.5:c.654A>G	ENSP00000440876.1:p.Arg218=
ENST00000543768.1:c.1623A>G	ENSP00000438739.1:p.Arg541=
XR_001748982.1:n.87+535T>C
XR_001748983.1:n.87+535T>C
XR_001748984.1:n.87+535T>C