Canonical Allele Identifier: CA7959879

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318357
• ClinVar RCV Id: RCV000262450 ; RCV000373430 ; RCV000934297
• dbSNP Id: rs72647527
• ExAC: 16:23224443 C / A
• gnomAD v2: 16-23224443-C-A
• gnomAD v3: 16-23213122-C-A
• gnomAD v4: 16-23213122-C-A
• MyVariant Identifiers: chr16:g.23224443C>A (hg19) ; chr16:g.23213122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23213122C>A , CM000678.2:g.23213122C>A	GRCh38
NC_000016.9:g.23224443C>A , CM000678.1:g.23224443C>A	GRCh37
NC_000016.8:g.23131944C>A	NCBI36
NG_011909.1:g.35404C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1452C>A MANE Select	ENSP00000300061.2:p.Leu484=
ENST00000300061.2:c.1452C>A	ENSP00000300061.2:p.Leu484=
NM_001039.3:c.1452C>A	NP_001030.2:p.Leu484=
NM_001039.4:c.1452C>A MANE Select	NP_001030.2:p.Leu484=