Canonical Allele Identifier: CA120272

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 9267
• ClinVar RCV Id: RCV000009849 ; RCV003162223
• dbSNP Id: rs137852635
• ExAC: 12:6457364 G / A
• gnomAD v2: 12-6457364-G-A
• gnomAD v4: 12-6348198-G-A
• MyVariant Identifiers: chr12:g.6457364G>A (hg19) ; chr12:g.6348198G>A (hg38)
• PubMed: PMID:10586178

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6348198G>A , CM000674.2:g.6348198G>A	GRCh38
NC_000012.11:g.6457364G>A , CM000674.1:g.6457364G>A	GRCh37
NC_000012.10:g.6327625G>A	NCBI36
NG_011945.1:g.34160C>T
NG_011945.2:g.34160C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1685C>T MANE Select	ENSP00000228916.2:p.Ser562Leu
ENST00000228916.6:c.1685C>T	ENSP00000228916.2:p.Ser562Leu
ENST00000338748.9:c.*756C>T	ENSP00000345028.5:n.*756C>T
ENST00000360168.7:c.1862C>T	ENSP00000353292.3:p.Ser621Leu
ENST00000396966.6:c.*91C>T	ENSP00000380166.2:n.*91C>T
ENST00000539953.1:n.286C>T
ENST00000540037.5:c.785C>T	ENSP00000440876.1:p.Ser262Leu
ENST00000543768.1:c.1754C>T	ENSP00000438739.1:p.Ser585Leu
NM_001038.5:c.1685C>T	NP_001029.1:p.Ser562Leu
NM_001159575.1:c.1754C>T	NP_001153047.1:p.Ser585Leu
NM_001159576.1:c.1862C>T	NP_001153048.1:p.Ser621Leu
XR_001748982.1:n.18G>A
XR_001748983.1:n.18G>A
XR_001748984.1:n.18G>A
NM_001038.6:c.1685C>T MANE Select	NP_001029.1:p.Ser562Leu
NM_001159576.2:c.1862C>T	NP_001153048.1:p.Ser621Leu
NM_001159575.2:c.1754C>T	NP_001153047.1:p.Ser585Leu