Canonical Allele Identifier: CA7959590

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318350
• ClinVar RCV Id: RCV000266905 ; RCV000361738 ; RCV002508210
• dbSNP Id: rs763601481
• ExAC: 16:23200912 C / T
• gnomAD v2: 16-23200912-C-T
• gnomAD v3: 16-23189591-C-T
• gnomAD v4: 16-23189591-C-T
• COSMIC: COSM4382444
• MyVariant Identifiers: chr16:g.23200912C>T (hg19) ; chr16:g.23189591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23189591C>T , CM000678.2:g.23189591C>T	GRCh38
NC_000016.9:g.23200912C>T , CM000678.1:g.23200912C>T	GRCh37
NC_000016.8:g.23108413C>T	NCBI36
NG_011909.1:g.11873C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.538C>T MANE Select	ENSP00000300061.2:p.Arg180Trp
ENST00000300061.2:c.538C>T	ENSP00000300061.2:p.Arg180Trp
NM_001039.3:c.538C>T	NP_001030.2:p.Arg180Trp
NM_001039.4:c.538C>T MANE Select	NP_001030.2:p.Arg180Trp