Canonical Allele Identifier: CA7959776

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318354
• ClinVar RCV Id: RCV000306115 ; RCV000363169
• dbSNP Id: rs752432261
• ExAC: 16:23221076 G / A
• gnomAD v2: 16-23221076-G-A
• gnomAD v3: 16-23209755-G-A
• gnomAD v4: 16-23209755-G-A
• MyVariant Identifiers: chr16:g.23221076G>A (hg19) ; chr16:g.23209755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23209755G>A , CM000678.2:g.23209755G>A	GRCh38
NC_000016.9:g.23221076G>A , CM000678.1:g.23221076G>A	GRCh37
NC_000016.8:g.23128577G>A	NCBI36
NG_011909.1:g.32037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.1083G>A MANE Select	ENSP00000300061.2:p.Glu361=
ENST00000300061.2:c.1083G>A	ENSP00000300061.2:p.Glu361=
NM_001039.3:c.1083G>A	NP_001030.2:p.Glu361=
NM_001039.4:c.1083G>A MANE Select	NP_001030.2:p.Glu361=