Canonical Allele Identifier: CA7959565

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318346
• ClinVar RCV Id: RCV000293883 ; RCV000348767
• dbSNP Id: rs200985912
• ExAC: 16:23200773 G / A
• gnomAD v2: 16-23200773-G-A
• gnomAD v3: 16-23189452-G-A
• gnomAD v4: 16-23189452-G-A
• MyVariant Identifiers: chr16:g.23200773G>A (hg19) ; chr16:g.23189452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23189452G>A , CM000678.2:g.23189452G>A	GRCh38
NC_000016.9:g.23200773G>A , CM000678.1:g.23200773G>A	GRCh37
NC_000016.8:g.23108274G>A	NCBI36
NG_011909.1:g.11734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.399G>A MANE Select	ENSP00000300061.2:p.Glu133=
ENST00000300061.2:c.399G>A	ENSP00000300061.2:p.Glu133=
NM_001039.3:c.399G>A	NP_001030.2:p.Glu133=
NM_001039.4:c.399G>A MANE Select	NP_001030.2:p.Glu133=