Canonical Allele Identifier: CA7959649

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318353
• ClinVar RCV Id: RCV000341227 ; RCV000399950 ; RCV000713394 ; RCV003479098
• dbSNP Id: rs72646501
• ExAC: 16:23203830 C / A
• gnomAD v2: 16-23203830-C-A
• gnomAD v3: 16-23192509-C-A
• gnomAD v4: 16-23192509-C-A
• MyVariant Identifiers: chr16:g.23203830C>A (hg19) ; chr16:g.23192509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23192509C>A , CM000678.2:g.23192509C>A	GRCh38
NC_000016.9:g.23203830C>A , CM000678.1:g.23203830C>A	GRCh37
NC_000016.8:g.23111331C>A	NCBI36
NG_011909.1:g.14791C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.776C>A MANE Select	ENSP00000300061.2:p.Thr259Asn
ENST00000300061.2:c.776C>A	ENSP00000300061.2:p.Thr259Asn
NM_001039.3:c.776C>A	NP_001030.2:p.Thr259Asn
NM_001039.4:c.776C>A MANE Select	NP_001030.2:p.Thr259Asn