Canonical Allele Identifier: CA383559071

Gene: SCNN1A

Linked Data

• dbSNP Id: rs1948855779
• gnomAD v4: 12-6374369-T-C
• MyVariant Identifiers: chr12:g.6483535T>C (hg19) ; chr12:g.6374369T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374369T>C , CM000674.2:g.6374369T>C	GRCh38
NC_000012.11:g.6483535T>C , CM000674.1:g.6483535T>C	GRCh37
NC_000012.10:g.6353796T>C	NCBI36
NG_011945.1:g.7989A>G
NG_033039.1:g.4002T>C
NG_011945.2:g.7989A>G
NG_033039.2:g.4002T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.415A>G MANE Select	ENSP00000228916.2:p.Arg139Gly
ENST00000228916.6:c.415A>G	ENSP00000228916.2:p.Arg139Gly
ENST00000338748.9:c.415A>G	ENSP00000345028.5:p.Arg139Gly
ENST00000360168.7:c.592A>G	ENSP00000353292.3:p.Arg198Gly
ENST00000396966.6:c.415A>G	ENSP00000380166.2:p.Arg139Gly
ENST00000536176.1:n.496A>G
ENST00000536788.1:c.478A>G
ENST00000538979.5:n.82+984A>G
ENST00000543585.1:n.551A>G
ENST00000543768.1:c.484A>G	ENSP00000438739.1:p.Arg162Gly
ENST00000544882.1:n.419A>G
NM_001038.5:c.415A>G	NP_001029.1:p.Arg139Gly
NM_001159575.1:c.484A>G	NP_001153047.1:p.Arg162Gly
NM_001159576.1:c.592A>G	NP_001153048.1:p.Arg198Gly
NM_001038.6:c.415A>G MANE Select	NP_001029.1:p.Arg139Gly
NM_001159576.2:c.592A>G	NP_001153048.1:p.Arg198Gly
NM_001159575.2:c.484A>G	NP_001153047.1:p.Arg162Gly