Canonical Allele Identifier: CA7959915

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318358
• ClinVar RCV Id: RCV000319801 ; RCV000376818 ; RCV000713396
• dbSNP Id: rs13306659
• ExAC: 16:23226118 G / A
• gnomAD v2: 16-23226118-G-A
• gnomAD v3: 16-23214797-G-A
• gnomAD v4: 16-23214797-G-A
• MyVariant Identifiers: chr16:g.23226118G>A (hg19) ; chr16:g.23214797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23214797G>A , CM000678.2:g.23214797G>A	GRCh38
NC_000016.9:g.23226118G>A , CM000678.1:g.23226118G>A	GRCh37
NC_000016.8:g.23133619G>A	NCBI36
NG_011909.1:g.37079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1569+10G>A MANE Select	ENSP00000300061.2:n.1569+10G>A
ENST00000300061.2:c.1569+10G>A	ENSP00000300061.2:n.1569+10G>A
NM_001039.3:c.1569+10G>A	NP_001030.2:n.1569+10G>A
NM_001039.4:c.1569+10G>A MANE Select	NP_001030.2:n.1569+10G>A