Canonical Allele Identifier: CA177892

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 165175
• ClinVar RCV Id: RCV000151822 ; RCV000277495 ; RCV000316196 ; RCV000713395 ; RCV001807095
• dbSNP Id: rs13306653
• ExAC: 16:23224416 G / A
• gnomAD v2: 16-23224416-G-A
• gnomAD v3: 16-23213095-G-A
• gnomAD v4: 16-23213095-G-A
• MyVariant Identifiers: chr16:g.23224416G>A (hg19) ; chr16:g.23213095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23213095G>A , CM000678.2:g.23213095G>A	GRCh38
NC_000016.9:g.23224416G>A , CM000678.1:g.23224416G>A	GRCh37
NC_000016.8:g.23131917G>A	NCBI36
NG_011909.1:g.35377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1432-7G>A MANE Select	ENSP00000300061.2:n.1432-7G>A
ENST00000300061.2:c.1432-7G>A	ENSP00000300061.2:n.1432-7G>A
NM_001039.3:c.1432-7G>A	NP_001030.2:n.1432-7G>A
NM_001039.4:c.1432-7G>A MANE Select	NP_001030.2:n.1432-7G>A