Canonical Allele Identifier: CA7959940

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 286685
• ClinVar RCV Id: RCV000278515 ; RCV000284257 ; RCV000341572 ; RCV000725881 ; RCV003930124
• dbSNP Id: rs72647541
• ExAC: 16:23226415 G / A
• gnomAD v2: 16-23226415-G-A
• gnomAD v3: 16-23215094-G-A
• gnomAD v4: 16-23215094-G-A
• MyVariant Identifiers: chr16:g.23226415G>A (hg19) ; chr16:g.23215094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23215094G>A , CM000678.2:g.23215094G>A	GRCh38
NC_000016.9:g.23226415G>A , CM000678.1:g.23226415G>A	GRCh37
NC_000016.8:g.23133916G>A	NCBI36
NG_011909.1:g.37376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1575G>A MANE Select	ENSP00000300061.2:p.Glu525=
ENST00000300061.2:c.1575G>A	ENSP00000300061.2:p.Glu525=
NM_001039.3:c.1575G>A	NP_001030.2:p.Glu525=
NM_001039.4:c.1575G>A MANE Select	NP_001030.2:p.Glu525=