Canonical Allele Identifier: CA6405829

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310136
• ClinVar RCV Id: RCV000276726 ; RCV000315468 ; RCV000961179
• dbSNP Id: rs144275086
• ExAC: 12:6458324 C / G
• gnomAD v2: 12-6458324-C-G
• gnomAD v3: 12-6349158-C-G
• gnomAD v4: 12-6349158-C-G
• MyVariant Identifiers: chr12:g.6458324C>G (hg19) ; chr12:g.6349158C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349158C>G , CM000674.2:g.6349158C>G	GRCh38
NC_000012.11:g.6458324C>G , CM000674.1:g.6458324C>G	GRCh37
NC_000012.10:g.6328585C>G	NCBI36
NG_011945.1:g.33200G>C
NG_011945.2:g.33200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1497+6G>C MANE Select	ENSP00000228916.2:n.1497+6G>C
ENST00000228916.6:c.1497+6G>C	ENSP00000228916.2:n.1497+6G>C
ENST00000338748.9:c.*568+6G>C	ENSP00000345028.5:n.*568+6G>C
ENST00000360168.7:c.1674+6G>C	ENSP00000353292.3:n.1674+6G>C
ENST00000396966.6:c.1440-153G>C	ENSP00000380166.2:n.1440-153G>C
ENST00000457871.2:n.444+6G>C
ENST00000540037.5:c.597+6G>C	ENSP00000440876.1:n.597+6G>C
ENST00000543768.1:c.1566+6G>C	ENSP00000438739.1:n.1566+6G>C
NM_001038.5:c.1497+6G>C	NP_001029.1:n.1497+6G>C
NM_001159575.1:c.1566+6G>C	NP_001153047.1:n.1566+6G>C
NM_001159576.1:c.1674+6G>C	NP_001153048.1:n.1674+6G>C
XR_001748982.1:n.87+891C>G
XR_001748983.1:n.87+891C>G
XR_001748984.1:n.87+891C>G
NM_001038.6:c.1497+6G>C MANE Select	NP_001029.1:n.1497+6G>C
NM_001159576.2:c.1674+6G>C	NP_001153048.1:n.1674+6G>C
NM_001159575.2:c.1566+6G>C	NP_001153047.1:n.1566+6G>C