Canonical Allele Identifier: CA383559718

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374543G>C , CM000674.2:g.6374543G>C	GRCh38
NC_000012.11:g.6483709G>C , CM000674.1:g.6483709G>C	GRCh37
NC_000012.10:g.6353970G>C	NCBI36
NG_011945.1:g.7815C>G
NG_033039.1:g.4176G>C
NG_011945.2:g.7815C>G
NG_033039.2:g.4176G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.241C>G MANE Select	NP_001029.1:p.Arg81Gly
ENST00000228916.7:c.241C>G MANE Select	ENSP00000228916.2:p.Arg81Gly
NM_001038.5:c.241C>G	NP_001029.1:p.Arg81Gly
NM_001159575.1:c.310C>G	NP_001153047.1:p.Arg104Gly
NM_001159575.2:c.310C>G	NP_001153047.1:p.Arg104Gly
NM_001159576.1:c.418C>G	NP_001153048.1:p.Arg140Gly
NM_001159576.2:c.418C>G	NP_001153048.1:p.Arg140Gly
ENST00000228916.6:c.241C>G	ENSP00000228916.2:p.Arg81Gly
ENST00000338748.9:c.241C>G	ENSP00000345028.5:p.Arg81Gly
ENST00000360168.7:c.418C>G	ENSP00000353292.3:p.Arg140Gly
ENST00000396966.6:c.241C>G	ENSP00000380166.2:p.Arg81Gly
ENST00000536176.1:n.322C>G
ENST00000536788.1:c.304C>G	ENSP00000443434.1:p.Arg102Gly
ENST00000538957.1:n.513C>G
ENST00000538979.5:n.82+810C>G
ENST00000542260.1:n.506C>G
ENST00000542436.1:n.481C>G
ENST00000543585.1:n.377C>G
ENST00000543768.1:c.310C>G	ENSP00000438739.1:p.Arg104Gly
ENST00000544882.1:n.245C>G