Canonical Allele Identifier: CA6405996

Gene: SCNN1A

Linked Data

• ClinVar Variation Id: 310142
• ClinVar RCV Id: RCV000350992 ; RCV000395520 ; RCV003727659
• dbSNP Id: rs569195112
• ExAC: 12:6464508 T / C
• gnomAD v2: 12-6464508-T-C
• gnomAD v3: 12-6355342-T-C
• gnomAD v4: 12-6355342-T-C
• MyVariant Identifiers: chr12:g.6464508T>C (hg19) ; chr12:g.6355342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6355342T>C , CM000674.2:g.6355342T>C	GRCh38
NC_000012.11:g.6464508T>C , CM000674.1:g.6464508T>C	GRCh37
NC_000012.10:g.6334769T>C	NCBI36
NG_011945.1:g.27016A>G
NG_011945.2:g.27016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000228916.7:c.1073A>G MANE Select	ENSP00000228916.2:p.Glu358Gly
ENST00000228916.6:c.1073A>G	ENSP00000228916.2:p.Glu358Gly
ENST00000338748.9:c.*144A>G	ENSP00000345028.5:n.*144A>G
ENST00000360168.7:c.1250A>G	ENSP00000353292.3:p.Glu417Gly
ENST00000366131.6:n.95A>G
ENST00000396966.6:c.1073A>G	ENSP00000380166.2:p.Glu358Gly
ENST00000538979.5:n.482A>G
ENST00000540037.5:c.173A>G	ENSP00000440876.1:p.Glu58Gly
ENST00000541249.5:n.263A>G
ENST00000542966.1:n.555A>G
ENST00000543768.1:c.1142A>G	ENSP00000438739.1:p.Glu381Gly
NM_001038.5:c.1073A>G	NP_001029.1:p.Glu358Gly
NM_001159575.1:c.1142A>G	NP_001153047.1:p.Glu381Gly
NM_001159576.1:c.1250A>G	NP_001153048.1:p.Glu417Gly
XR_001748984.1:n.554-183T>C
NM_001038.6:c.1073A>G MANE Select	NP_001029.1:p.Glu358Gly
NM_001159576.2:c.1250A>G	NP_001153048.1:p.Glu417Gly
NM_001159575.2:c.1142A>G	NP_001153047.1:p.Glu381Gly