Canonical Allele Identifier: CA177894

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 165177
• ClinVar RCV Id: RCV000151824 ; RCV000348242 ; RCV000309769 ; RCV000710223 ; RCV001807097
• dbSNP Id: rs5723
• ExAC: 16:23226787 C / G
• gnomAD v2: 16-23226787-C-G
• gnomAD v3: 16-23215466-C-G
• gnomAD v4: 16-23215466-C-G
• MyVariant Identifiers: chr16:g.23226787C>G (hg19) ; chr16:g.23215466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23215466C>G , CM000678.2:g.23215466C>G	GRCh38
NC_000016.9:g.23226787C>G , CM000678.1:g.23226787C>G	GRCh37
NC_000016.8:g.23134288C>G	NCBI36
NG_011909.1:g.37748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1947C>G MANE Select	ENSP00000300061.2:p.Leu649=
ENST00000300061.2:c.1947C>G	ENSP00000300061.2:p.Leu649=
NM_001039.3:c.1947C>G	NP_001030.2:p.Leu649=
NM_001039.4:c.1947C>G MANE Select	NP_001030.2:p.Leu649=