Canonical Allele Identifier: CA7959806

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318355
• ClinVar RCV Id: RCV000274328 ; RCV000366583 ; RCV001329526 ; RCV002495002
• dbSNP Id: rs202142122
• ExAC: 16:23223365 A / G
• gnomAD v2: 16-23223365-A-G
• gnomAD v3: 16-23212044-A-G
• gnomAD v4: 16-23212044-A-G
• MyVariant Identifiers: chr16:g.23223365A>G (hg19) ; chr16:g.23212044A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23212044A>G , CM000678.2:g.23212044A>G	GRCh38
NC_000016.9:g.23223365A>G , CM000678.1:g.23223365A>G	GRCh37
NC_000016.8:g.23130866A>G	NCBI36
NG_011909.1:g.34326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1187A>G MANE Select	ENSP00000300061.2:p.His396Arg
ENST00000300061.2:c.1187A>G	ENSP00000300061.2:p.His396Arg
NM_001039.3:c.1187A>G	NP_001030.2:p.His396Arg
NM_001039.4:c.1187A>G MANE Select	NP_001030.2:p.His396Arg