Canonical Allele Identifier: CA10648102

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318377
• ClinVar RCV Id: RCV000295220 ; RCV000333799
• dbSNP Id: rs80081880
• gnomAD v2: 16-23227937-A-G
• gnomAD v3: 16-23216616-A-G
• gnomAD v4: 16-23216616-A-G
• MyVariant Identifiers: chr16:g.23227937A>G (hg19) ; chr16:g.23216616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23216616A>G , CM000678.2:g.23216616A>G	GRCh38
NC_000016.9:g.23227937A>G , CM000678.1:g.23227937A>G	GRCh37
NC_000016.8:g.23135438A>G	NCBI36
NG_011909.1:g.38898A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.*1147A>G MANE Select	ENSP00000300061.2:n.*1147A>G
ENST00000300061.2:c.*1147A>G	ENSP00000300061.2:n.*1147A>G
NM_001039.3:c.*1147A>G	NP_001030.2:n.*1147A>G
NM_001039.4:c.*1147A>G MANE Select	NP_001030.2:n.*1147A>G