Canonical Allele Identifier: CA383559350

Gene: SCNN1A

Linked Data

• MyVariant Identifiers: chr12:g.6483613G>A (hg19) ; chr12:g.6374447G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374447G>A , CM000674.2:g.6374447G>A	GRCh38
NC_000012.11:g.6483613G>A , CM000674.1:g.6483613G>A	GRCh37
NC_000012.10:g.6353874G>A	NCBI36
NG_011945.1:g.7911C>T
NG_033039.1:g.4080G>A
NG_011945.2:g.7911C>T
NG_033039.2:g.4080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.337C>T MANE Select	ENSP00000228916.2:p.Pro113Ser
ENST00000228916.6:c.337C>T	ENSP00000228916.2:p.Pro113Ser
ENST00000338748.9:c.337C>T	ENSP00000345028.5:p.Pro113Ser
ENST00000360168.7:c.514C>T	ENSP00000353292.3:p.Pro172Ser
ENST00000396966.6:c.337C>T	ENSP00000380166.2:p.Pro113Ser
ENST00000536176.1:n.418C>T
ENST00000536788.1:c.400C>T	ENSP00000443434.1:p.Pro134Ser
ENST00000538979.5:n.82+906C>T
ENST00000543585.1:n.473C>T
ENST00000543768.1:c.406C>T	ENSP00000438739.1:p.Pro136Ser
ENST00000544882.1:n.341C>T
NM_001038.5:c.337C>T	NP_001029.1:p.Pro113Ser
NM_001159575.1:c.406C>T	NP_001153047.1:p.Pro136Ser
NM_001159576.1:c.514C>T	NP_001153048.1:p.Pro172Ser
NM_001038.6:c.337C>T MANE Select	NP_001029.1:p.Pro113Ser
NM_001159576.2:c.514C>T	NP_001153048.1:p.Pro172Ser
NM_001159575.2:c.406C>T	NP_001153047.1:p.Pro136Ser