Canonical Allele Identifier: CA478505466

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374844G>A , CM000674.2:g.6374844G>A	GRCh38
NC_000012.11:g.6484010G>A , CM000674.1:g.6484010G>A	GRCh37
NC_000012.10:g.6354271G>A	NCBI36
NG_011945.1:g.7514C>T
NG_033039.1:g.4477G>A
NG_011945.2:g.7514C>T
NG_033039.2:g.4477G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001038.6:c.-54-7C>T MANE Select	NP_001029.1:n.-54-7C>T
ENST00000228916.7:c.-54-7C>T MANE Select	ENSP00000228916.2:n.-54-7C>T
NM_001038.5:c.-54-7C>T	NP_001029.1:n.-54-7C>T
NM_001159575.1:c.16-7C>T	NP_001153047.1:n.16-7C>T
NM_001159575.2:c.16-7C>T	NP_001153047.1:n.16-7C>T
NM_001159576.1:c.117C>T	NP_001153048.1:p.Leu39=
NM_001159576.2:c.117C>T	NP_001153048.1:p.Leu39=
ENST00000228916.6:c.-54-7C>T	ENSP00000228916.2:n.-54-7C>T
ENST00000360168.7:c.117C>T	ENSP00000353292.3:p.Leu39=
ENST00000536176.1:n.28-7C>T
ENST00000536411.1:n.525-7C>T
ENST00000536788.1:c.10-7C>T	ENSP00000443434.1:n.10-7C>T
ENST00000538957.1:n.219-7C>T
ENST00000538979.5:n.82+509C>T
ENST00000542260.1:n.212-7C>T
ENST00000542436.1:n.187-7C>T
ENST00000543585.1:n.192-116C>T
ENST00000543768.1:c.16-7C>T	ENSP00000438739.1:n.16-7C>T
ENST00000544882.1:n.60-116C>T
ENST00000545605.1:n.364-7C>T