Canonical Allele Identifier: CA7959943

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318359
• ClinVar RCV Id: RCV000287850 ; RCV000379928 ; RCV001200889 ; RCV002522828
• dbSNP Id: rs148985177
• ExAC: 16:23226429 A / G
• gnomAD v2: 16-23226429-A-G
• gnomAD v3: 16-23215108-A-G
• gnomAD v4: 16-23215108-A-G
• MyVariant Identifiers: chr16:g.23226429A>G (hg19) ; chr16:g.23215108A>G (hg38)
• PubMed: PMID:12473862

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23215108A>G , CM000678.2:g.23215108A>G	GRCh38
NC_000016.9:g.23226429A>G , CM000678.1:g.23226429A>G	GRCh37
NC_000016.8:g.23133930A>G	NCBI36
NG_011909.1:g.37390A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1589A>G MANE Select	ENSP00000300061.2:p.Asn530Ser
ENST00000300061.2:c.1589A>G	ENSP00000300061.2:p.Asn530Ser
NM_001039.3:c.1589A>G	NP_001030.2:p.Asn530Ser
NM_001039.4:c.1589A>G MANE Select	NP_001030.2:p.Asn530Ser