Canonical Allele Identifier: CA119952
Gene: SCNN1G HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'