Canonical Allele Identifier: CA7959577

Gene: SCNN1G

Linked Data

• ClinVar Variation Id: 318348
• ClinVar RCV Id: RCV000335799 ; RCV000407524 ; RCV004021648
• dbSNP Id: rs754747376
• ExAC: 16:23200820 G / C
• gnomAD v2: 16-23200820-G-C
• gnomAD v3: 16-23189499-G-C
• gnomAD v4: 16-23189499-G-C
• MyVariant Identifiers: chr16:g.23200820G>C (hg19) ; chr16:g.23189499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23189499G>C , CM000678.2:g.23189499G>C	GRCh38
NC_000016.9:g.23200820G>C , CM000678.1:g.23200820G>C	GRCh37
NC_000016.8:g.23108321G>C	NCBI36
NG_011909.1:g.11781G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300061.3:c.446G>C MANE Select	ENSP00000300061.2:p.Gly149Ala
ENST00000300061.2:c.446G>C	ENSP00000300061.2:p.Gly149Ala
NM_001039.3:c.446G>C	NP_001030.2:p.Gly149Ala
NM_001039.4:c.446G>C MANE Select	NP_001030.2:p.Gly149Ala