Canonical Allele Identifier: CA10637361
Gene: SCNN1G HGNC NCBI

Linked Data

ClinVar Variation Id: 318380
ClinVar RCV Id: RCV000283583 RCV000340876 RCV001675808
dbSNP Id: rs72647549
gnomAD v2: 16-23228159-C-T
gnomAD v3: 16-23216838-C-T
gnomAD v4: 16-23216838-C-T
MyVariant Identifiers: chr16:g.23228159C>T (hg19) chr16:g.23216838C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23216838C>T , CM000678.2:g.23216838C>T GRCh38
NC_000016.9:g.23228159C>T , CM000678.1:g.23228159C>T GRCh37
NC_000016.8:g.23135660C>T NCBI36
NG_011909.1:g.39120C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.*1369C>T MANE Select ENSP00000300061.2:n.*1369C>T
ENST00000300061.2:c.*1369C>T ENSP00000300061.2:n.*1369C>T
NM_001039.3:c.*1369C>T NP_001030.2:n.*1369C>T
NM_001039.4:c.*1369C>T MANE Select NP_001030.2:n.*1369C>T
Search 100 bp 5'
Search 100 bp 3'