Canonical Allele Identifier: CA383559065

Gene: SCNN1A

Linked Data

• MyVariant Identifiers: chr12:g.6483534C>A (hg19) ; chr12:g.6374368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374368C>A , CM000674.2:g.6374368C>A	GRCh38
NC_000012.11:g.6483534C>A , CM000674.1:g.6483534C>A	GRCh37
NC_000012.10:g.6353795C>A	NCBI36
NG_011945.1:g.7990G>T
NG_033039.1:g.4001C>A
NG_011945.2:g.7990G>T
NG_033039.2:g.4001C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.416G>T MANE Select	ENSP00000228916.2:p.Arg139Met
ENST00000228916.6:c.416G>T	ENSP00000228916.2:p.Arg139Met
ENST00000338748.9:c.416G>T	ENSP00000345028.5:p.Arg139Met
ENST00000360168.7:c.593G>T	ENSP00000353292.3:p.Arg198Met
ENST00000396966.6:c.416G>T	ENSP00000380166.2:p.Arg139Met
ENST00000536176.1:n.497G>T
ENST00000538979.5:n.82+985G>T
ENST00000543585.1:n.552G>T
ENST00000543768.1:c.485G>T	ENSP00000438739.1:p.Arg162Met
ENST00000544882.1:n.420G>T
NM_001038.5:c.416G>T	NP_001029.1:p.Arg139Met
NM_001159575.1:c.485G>T	NP_001153047.1:p.Arg162Met
NM_001159576.1:c.593G>T	NP_001153048.1:p.Arg198Met
NM_001038.6:c.416G>T MANE Select	NP_001029.1:p.Arg139Met
NM_001159576.2:c.593G>T	NP_001153048.1:p.Arg198Met
NM_001159575.2:c.485G>T	NP_001153047.1:p.Arg162Met