Canonical Allele Identifier: CA10643197

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318379
• ClinVar RCV Id: RCV000337435 ; RCV000400777 ; RCV002278427
• dbSNP Id: rs8043698
• gnomAD v2: 16-23228051-G-A
• gnomAD v3: 16-23216730-G-A
• gnomAD v4: 16-23216730-G-A
• MyVariant Identifiers: chr16:g.23228051G>A (hg19) ; chr16:g.23216730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23216730G>A , CM000678.2:g.23216730G>A	GRCh38
NC_000016.9:g.23228051G>A , CM000678.1:g.23228051G>A	GRCh37
NC_000016.8:g.23135552G>A	NCBI36
NG_011909.1:g.39012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.*1261G>A MANE Select	ENSP00000300061.2:n.*1261G>A
ENST00000300061.2:c.*1261G>A	ENSP00000300061.2:n.*1261G>A
NM_001039.3:c.*1261G>A	NP_001030.2:n.*1261G>A
NM_001039.4:c.*1261G>A MANE Select	NP_001030.2:n.*1261G>A