Canonical Allele Identifier: CA177893

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 165176
• ClinVar RCV Id: RCV000151823 ; RCV000309447 ; RCV000391223 ; RCV001594858 ; RCV001807096
• dbSNP Id: rs5740
• ExAC: 16:23221183 A / G
• gnomAD v2: 16-23221183-A-G
• gnomAD v3: 16-23209862-A-G
• gnomAD v4: 16-23209862-A-G
• MyVariant Identifiers: chr16:g.23221183A>G (hg19) ; chr16:g.23209862A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23209862A>G , CM000678.2:g.23209862A>G	GRCh38
NC_000016.9:g.23221183A>G , CM000678.1:g.23221183A>G	GRCh37
NC_000016.8:g.23128684A>G	NCBI36
NG_011909.1:g.32144A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1176+14A>G MANE Select	ENSP00000300061.2:n.1176+14A>G
ENST00000300061.2:c.1176+14A>G	ENSP00000300061.2:n.1176+14A>G
NM_001039.3:c.1176+14A>G	NP_001030.2:n.1176+14A>G
NM_001039.4:c.1176+14A>G MANE Select	NP_001030.2:n.1176+14A>G