Canonical Allele Identifier: CA119952

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 8828
• ClinVar RCV Id: RCV000009376 ; RCV000224250 ; RCV000272918 ; RCV000328044 ; RCV000609005 ; RCV003924821
• dbSNP Id: rs5736
• ExAC: 16:23200921 G / A
• gnomAD v2: 16-23200921-G-A
• gnomAD v3: 16-23189600-G-A
• gnomAD v4: 16-23189600-G-A
• MyVariant Identifiers: chr16:g.23200921G>A (hg19) ; chr16:g.23189600G>A (hg38)
• PubMed: PMID:18507830 ; PMID:22995991 ; PMID:25900089

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23189600G>A , CM000678.2:g.23189600G>A	GRCh38
NC_000016.9:g.23200921G>A , CM000678.1:g.23200921G>A	GRCh37
NC_000016.8:g.23108422G>A	NCBI36
NG_011909.1:g.11882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.547G>A MANE Select	ENSP00000300061.2:p.Gly183Ser
ENST00000300061.2:c.547G>A	ENSP00000300061.2:p.Gly183Ser
NM_001039.3:c.547G>A	NP_001030.2:p.Gly183Ser
NM_001039.4:c.547G>A MANE Select	NP_001030.2:p.Gly183Ser