Canonical Allele Identifier: CA13612657

Gene: SCNN1A

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6356915A>G , CM000674.2:g.6356915A>G	GRCh38
NC_000012.11:g.6466081A>G , CM000674.1:g.6466081A>G	GRCh37
NC_000012.10:g.6336342A>G	NCBI36
NG_011945.1:g.25443T>C
NG_011945.2:g.25443T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.876-1035T>C MANE Select	ENSP00000228916.2:n.876-1035T>C
ENST00000228916.6:c.876-1035T>C	ENSP00000228916.2:n.876-1035T>C
ENST00000338748.9:c.685-1035T>C	ENSP00000345028.5:n.685-1035T>C
ENST00000360168.7:c.1053-1035T>C	ENSP00000353292.3:n.1053-1035T>C
ENST00000396966.6:c.876-1035T>C	ENSP00000380166.2:n.876-1035T>C
ENST00000538979.5:n.83-521T>C
ENST00000540037.5:c.-25-1035T>C	ENSP00000440876.1:n.-25-1035T>C
ENST00000541249.5:n.123-1035T>C
ENST00000542966.1:n.358-1035T>C
ENST00000543768.1:c.945-1035T>C	ENSP00000438739.1:n.945-1035T>C
NM_001038.5:c.876-1035T>C	NP_001029.1:n.876-1035T>C
NM_001159575.1:c.945-1035T>C	NP_001153047.1:n.945-1035T>C
NM_001159576.1:c.1053-1035T>C	NP_001153048.1:n.1053-1035T>C
NM_001038.6:c.876-1035T>C MANE Select	NP_001029.1:n.876-1035T>C
NM_001159576.2:c.1053-1035T>C	NP_001153048.1:n.1053-1035T>C
NM_001159575.2:c.945-1035T>C	NP_001153047.1:n.945-1035T>C