Canonical Allele Identifier: CA891862938

Gene: SCNN1A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6355413_6355415delinsGGT , CM000674.2:g.6355413_6355415delinsGGT	GRCh38
NC_000012.11:g.6464579_6464581delinsGGT , CM000674.1:g.6464579_6464581delinsGGT	GRCh37
NC_000012.10:g.6334840_6334842delinsGGT	NCBI36
NG_011945.1:g.26943_26945delinsACC
NG_011945.2:g.26943_26945delinsACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1000_1002delinsACC MANE Select	ENSP00000228916.2:p.Ala334Thr
ENST00000228916.6:c.1000_1002delinsACC	ENSP00000228916.2:p.Ala334Thr
ENST00000338748.9:c.*71_*73delinsACC	ENSP00000345028.5:n.*71_*73delinsACC
ENST00000360168.7:c.1177_1179delinsACC	ENSP00000353292.3:p.Ala393Thr
ENST00000366131.6:n.22_24delinsACC
ENST00000396966.6:c.1000_1002delinsACC	ENSP00000380166.2:p.Ala334Thr
ENST00000536087.1:n.538_540delinsACC
ENST00000538979.5:n.409_411delinsACC
ENST00000540037.5:c.100_102delinsACC	ENSP00000440876.1:p.Ala34Thr
ENST00000541249.5:n.227-37_227-35delinsACC
ENST00000542966.1:n.482_484delinsACC
ENST00000543768.1:c.1069_1071delinsACC	ENSP00000438739.1:p.Ala357Thr
NM_001038.5:c.1000_1002delinsACC	NP_001029.1:p.Ala334Thr
NM_001159575.1:c.1069_1071delinsACC	NP_001153047.1:p.Ala357Thr
NM_001159576.1:c.1177_1179delinsACC	NP_001153048.1:p.Ala393Thr
XR_001748984.1:n.554-112_554-110delinsGGT
NM_001038.6:c.1000_1002delinsACC MANE Select	NP_001029.1:p.Ala334Thr
NM_001159576.2:c.1177_1179delinsACC	NP_001153048.1:p.Ala393Thr
NM_001159575.2:c.1069_1071delinsACC	NP_001153047.1:p.Ala357Thr