Canonical Allele Identifier: CA119954

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 8829
• ClinVar RCV Id: RCV000009377 ; RCV000388570 ; RCV000250994 ; RCV000334111 ; RCV000713392 ; RCV002490346
• dbSNP Id: rs5738
• ExAC: 16:23200963 G / A
• gnomAD v2: 16-23200963-G-A
• gnomAD v3: 16-23189642-G-A
• gnomAD v4: 16-23189642-G-A
• MyVariant Identifiers: chr16:g.23200963G>A (hg19) ; chr16:g.23189642G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)
• PubMed: PMID:18507830

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23189642G>A , CM000678.2:g.23189642G>A	GRCh38
NC_000016.9:g.23200963G>A , CM000678.1:g.23200963G>A	GRCh37
NC_000016.8:g.23108464G>A	NCBI36
NG_011909.1:g.11924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.589G>A MANE Select	ENSP00000300061.2:p.Glu197Lys
ENST00000300061.2:c.589G>A	ENSP00000300061.2:p.Glu197Lys
NM_001039.3:c.589G>A	NP_001030.2:p.Glu197Lys
NM_001039.4:c.589G>A MANE Select	NP_001030.2:p.Glu197Lys