Canonical Allele Identifier: CA7959463

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318344
• ClinVar RCV Id: RCV000267876 ; RCV000322965 ; RCV001653557
• dbSNP Id: rs5732
• ExAC: 16:23197562 A / G
• gnomAD v2: 16-23197562-A-G
• gnomAD v3: 16-23186241-A-G
• gnomAD v4: 16-23186241-A-G
• MyVariant Identifiers: chr16:g.23197562A>G (hg19) ; chr16:g.23186241A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23186241A>G , CM000678.2:g.23186241A>G	GRCh38
NC_000016.9:g.23197562A>G , CM000678.1:g.23197562A>G	GRCh37
NC_000016.8:g.23105063A>G	NCBI36
NG_011909.1:g.8523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.-31A>G MANE Select	ENSP00000300061.2:n.-31A>G
ENST00000300061.2:c.-31A>G	ENSP00000300061.2:n.-31A>G
NM_001039.3:c.-31A>G	NP_001030.2:n.-31A>G
NM_001039.4:c.-31A>G MANE Select	NP_001030.2:n.-31A>G