Canonical Allele Identifier: CA383552553

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6347895G>C , CM000674.2:g.6347895G>C	GRCh38
NC_000012.11:g.6457061G>C , CM000674.1:g.6457061G>C	GRCh37
NC_000012.10:g.6327322G>C	NCBI36
NG_011945.1:g.34463C>G
NG_011945.2:g.34463C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1988C>G MANE Select	ENSP00000228916.2:p.Thr663Ser
ENST00000228916.6:c.1988C>G	ENSP00000228916.2:p.Thr663Ser
ENST00000338748.9:c.*1059C>G	ENSP00000345028.5:n.*1059C>G
ENST00000360168.7:c.2165C>G	ENSP00000353292.3:p.Thr722Ser
ENST00000396966.6:c.*394C>G	ENSP00000380166.2:n.*394C>G
ENST00000540037.5:c.1088C>G	ENSP00000440876.1:p.Thr363Ser
ENST00000543768.1:c.2057C>G	ENSP00000438739.1:p.Thr686Ser
NM_001038.5:c.1988C>G	NP_001029.1:p.Thr663Ser
NM_001159575.1:c.2057C>G	NP_001153047.1:p.Thr686Ser
NM_001159576.1:c.2165C>G	NP_001153048.1:p.Thr722Ser
NM_001038.6:c.1988C>G MANE Select	NP_001029.1:p.Thr663Ser
NM_001159576.2:c.2165C>G	NP_001153048.1:p.Thr722Ser
NM_001159575.2:c.2057C>G	NP_001153047.1:p.Thr686Ser