Canonical Allele Identifier: CA119954
Gene: SCNN1G HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'