Canonical Allele Identifier: CA10643196

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318371
• ClinVar RCV Id: RCV000300448 ; RCV000398594 ; RCV001613023
• dbSNP Id: rs9922851
• gnomAD v2: 16-23227449-T-C
• gnomAD v3: 16-23216128-T-C
• gnomAD v4: 16-23216128-T-C
• MyVariant Identifiers: chr16:g.23227449T>C (hg19) ; chr16:g.23216128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23216128T>C , CM000678.2:g.23216128T>C	GRCh38
NC_000016.9:g.23227449T>C , CM000678.1:g.23227449T>C	GRCh37
NC_000016.8:g.23134950T>C	NCBI36
NG_011909.1:g.38410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.*659T>C MANE Select	ENSP00000300061.2:n.*659T>C
ENST00000300061.2:c.*659T>C	ENSP00000300061.2:n.*659T>C
NM_001039.3:c.*659T>C	NP_001030.2:n.*659T>C
NM_001039.4:c.*659T>C MANE Select	NP_001030.2:n.*659T>C