Canonical Allele Identifier: CA10643203

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318381
• ClinVar RCV Id: RCV000306591 ; RCV000401574
• dbSNP Id: rs72647550
• gnomAD v2: 16-23228160-G-A
• gnomAD v3: 16-23216839-G-A
• gnomAD v4: 16-23216839-G-A
• MyVariant Identifiers: chr16:g.23228160G>A (hg19) ; chr16:g.23216839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23216839G>A , CM000678.2:g.23216839G>A	GRCh38
NC_000016.9:g.23228160G>A , CM000678.1:g.23228160G>A	GRCh37
NC_000016.8:g.23135661G>A	NCBI36
NG_011909.1:g.39121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.*1370G>A MANE Select	ENSP00000300061.2:n.*1370G>A
ENST00000300061.2:c.*1370G>A	ENSP00000300061.2:n.*1370G>A
NM_001039.3:c.*1370G>A	NP_001030.2:n.*1370G>A
NM_001039.4:c.*1370G>A MANE Select	NP_001030.2:n.*1370G>A