Canonical Allele Identifier: CA6405832

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310137
• ClinVar RCV Id: RCV000270746 ; RCV000363055 ; RCV000825085 ; RCV000898186
• dbSNP Id: rs3764873
• ExAC: 12:6458342 C / A
• gnomAD v2: 12-6458342-C-A
• gnomAD v3: 12-6349176-C-A
• gnomAD v4: 12-6349176-C-A
• MyVariant Identifiers: chr12:g.6458342C>A (hg19) ; chr12:g.6349176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349176C>A , CM000674.2:g.6349176C>A	GRCh38
NC_000012.11:g.6458342C>A , CM000674.1:g.6458342C>A	GRCh37
NC_000012.10:g.6328603C>A	NCBI36
NG_011945.1:g.33182G>T
NG_011945.2:g.33182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1485G>T MANE Select	ENSP00000228916.2:p.Ser495=
ENST00000228916.6:c.1485G>T	ENSP00000228916.2:p.Ser495=
ENST00000338748.9:c.*556G>T	ENSP00000345028.5:n.*556G>T
ENST00000360168.7:c.1662G>T	ENSP00000353292.3:p.Ser554=
ENST00000396966.6:c.1439+151G>T	ENSP00000380166.2:n.1439+151G>T
ENST00000457871.2:n.432G>T
ENST00000540037.5:c.585G>T	ENSP00000440876.1:p.Ser195=
ENST00000543768.1:c.1554G>T	ENSP00000438739.1:p.Ser518=
NM_001038.5:c.1485G>T	NP_001029.1:p.Ser495=
NM_001159575.1:c.1554G>T	NP_001153047.1:p.Ser518=
NM_001159576.1:c.1662G>T	NP_001153048.1:p.Ser554=
XR_001748982.1:n.87+909C>A
XR_001748983.1:n.87+909C>A
XR_001748984.1:n.87+909C>A
NM_001038.6:c.1485G>T MANE Select	NP_001029.1:p.Ser495=
NM_001159576.2:c.1662G>T	NP_001153048.1:p.Ser554=
NM_001159575.2:c.1554G>T	NP_001153047.1:p.Ser518=