Canonical Allele Identifier: CA232368464

Gene: SCNN1A

Linked Data

• dbSNP Id: rs13306620
• gnomAD v2: 12-6483530-C-T
• gnomAD v3: 12-6374364-C-T
• gnomAD v4: 12-6374364-C-T
• MyVariant Identifiers: chr12:g.6483530C>T (hg19) ; chr12:g.6374364C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6374364C>T , CM000674.2:g.6374364C>T	GRCh38
NC_000012.11:g.6483530C>T , CM000674.1:g.6483530C>T	GRCh37
NC_000012.10:g.6353791C>T	NCBI36
NG_011945.1:g.7994G>A
NG_033039.1:g.3997C>T
NG_011945.2:g.7994G>A
NG_033039.2:g.3997C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.416+4G>A MANE Select	ENSP00000228916.2:n.416+4G>A
ENST00000228916.6:c.416+4G>A	ENSP00000228916.2:n.416+4G>A
ENST00000338748.9:c.416+4G>A	ENSP00000345028.5:n.416+4G>A
ENST00000360168.7:c.593+4G>A	ENSP00000353292.3:n.593+4G>A
ENST00000396966.6:c.416+4G>A	ENSP00000380166.2:n.416+4G>A
ENST00000536176.1:n.497+4G>A
ENST00000538979.5:n.82+989G>A
ENST00000543768.1:c.485+4G>A	ENSP00000438739.1:n.485+4G>A
ENST00000544882.1:n.420+4G>A
NM_001038.5:c.416+4G>A	NP_001029.1:n.416+4G>A
NM_001159575.1:c.485+4G>A	NP_001153047.1:n.485+4G>A
NM_001159576.1:c.593+4G>A	NP_001153048.1:n.593+4G>A
NM_001038.6:c.416+4G>A MANE Select	NP_001029.1:n.416+4G>A
NM_001159576.2:c.593+4G>A	NP_001153048.1:n.593+4G>A
NM_001159575.2:c.485+4G>A	NP_001153047.1:n.485+4G>A