Canonical Allele Identifier: CA10643194

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318367
• ClinVar RCV Id: RCV000290607 ; RCV000347941 ; RCV001690059
• dbSNP Id: rs5728
• gnomAD v2: 16-23227362-A-G
• gnomAD v3: 16-23216041-A-G
• gnomAD v4: 16-23216041-A-G
• MyVariant Identifiers: chr16:g.23227362A>G (hg19) ; chr16:g.23216041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23216041A>G , CM000678.2:g.23216041A>G	GRCh38
NC_000016.9:g.23227362A>G , CM000678.1:g.23227362A>G	GRCh37
NC_000016.8:g.23134863A>G	NCBI36
NG_011909.1:g.38323A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.*572A>G MANE Select	ENSP00000300061.2:n.*572A>G
ENST00000300061.2:c.*572A>G	ENSP00000300061.2:n.*572A>G
NM_001039.3:c.*572A>G	NP_001030.2:n.*572A>G
NM_001039.4:c.*572A>G MANE Select	NP_001030.2:n.*572A>G