Canonical Allele Identifier: CA6405834

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310138
• ClinVar RCV Id: RCV000328262 ; RCV000385070 ; RCV000728158 ; RCV000949782
• dbSNP Id: rs148749888
• ExAC: 12:6458343 G / A
• gnomAD v2: 12-6458343-G-A
• gnomAD v3: 12-6349177-G-A
• gnomAD v4: 12-6349177-G-A
• MyVariant Identifiers: chr12:g.6458343G>A (hg19) ; chr12:g.6349177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6349177G>A , CM000674.2:g.6349177G>A	GRCh38
NC_000012.11:g.6458343G>A , CM000674.1:g.6458343G>A	GRCh37
NC_000012.10:g.6328604G>A	NCBI36
NG_011945.1:g.33181C>T
NG_011945.2:g.33181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1484C>T MANE Select	ENSP00000228916.2:p.Ser495Leu
ENST00000228916.6:c.1484C>T	ENSP00000228916.2:p.Ser495Leu
ENST00000338748.9:c.*555C>T	ENSP00000345028.5:n.*555C>T
ENST00000360168.7:c.1661C>T	ENSP00000353292.3:p.Ser554Leu
ENST00000396966.6:c.1439+150C>T	ENSP00000380166.2:n.1439+150C>T
ENST00000457871.2:n.431C>T
ENST00000540037.5:c.584C>T	ENSP00000440876.1:p.Ser195Leu
ENST00000543768.1:c.1553C>T	ENSP00000438739.1:p.Ser518Leu
NM_001038.5:c.1484C>T	NP_001029.1:p.Ser495Leu
NM_001159575.1:c.1553C>T	NP_001153047.1:p.Ser518Leu
NM_001159576.1:c.1661C>T	NP_001153048.1:p.Ser554Leu
XR_001748982.1:n.87+910G>A
XR_001748983.1:n.87+910G>A
XR_001748984.1:n.87+910G>A
NM_001038.6:c.1484C>T MANE Select	NP_001029.1:p.Ser495Leu
NM_001159576.2:c.1661C>T	NP_001153048.1:p.Ser554Leu
NM_001159575.2:c.1553C>T	NP_001153047.1:p.Ser518Leu