Canonical Allele Identifier: CA3054215742

Gene: SCNN1A

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6347896_6347897delinsCA , CM000674.2:g.6347896_6347897delinsCA	GRCh38
NC_000012.11:g.6457062_6457063delinsCA , CM000674.1:g.6457062_6457063delinsCA	GRCh37
NC_000012.10:g.6327323_6327324delinsCA	NCBI36
NG_011945.1:g.34461_34462delinsTG
NG_011945.2:g.34461_34462delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1986_1987delinsTG MANE Select	ENSP00000228916.2:p.Thr663Ala
ENST00000228916.6:c.1986_1987delinsTG	ENSP00000228916.2:p.Thr663Ala
ENST00000338748.9:c.*1057_*1058delinsTG	ENSP00000345028.5:n.*1057_*1058delinsTG
ENST00000360168.7:c.2163_2164delinsTG	ENSP00000353292.3:p.Thr722Ala
ENST00000396966.6:c.*392_*393delinsTG	ENSP00000380166.2:n.*392_*393delinsTG
ENST00000540037.5:c.1086_1087delinsTG	ENSP00000440876.1:p.Thr363Ala
ENST00000543768.1:c.2055_2056delinsTG	ENSP00000438739.1:p.Thr686Ala
NM_001038.5:c.1986_1987delinsTG	NP_001029.1:p.Thr663Ala
NM_001159575.1:c.2055_2056delinsTG	NP_001153047.1:p.Thr686Ala
NM_001159576.1:c.2163_2164delinsTG	NP_001153048.1:p.Thr722Ala
NM_001038.6:c.1986_1987delinsTG MANE Select	NP_001029.1:p.Thr663Ala
NM_001159576.2:c.2163_2164delinsTG	NP_001153048.1:p.Thr722Ala
NM_001159575.2:c.2055_2056delinsTG	NP_001153047.1:p.Thr686Ala