Canonical Allele Identifier: CA395103540
Gene: SCNN1G HGNC NCBI

Linked Data

ClinVar Variation Id: 885259
ClinVar RCV Id: RCV001116746 RCV001116747
dbSNP Id: rs1960141342
MyVariant Identifiers: chr16:g.23226564G>C (hg19) chr16:g.23215243G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215243G>C , CM000678.2:g.23215243G>C GRCh38
NC_000016.9:g.23226564G>C , CM000678.1:g.23226564G>C GRCh37
NC_000016.8:g.23134065G>C NCBI36
NG_011909.1:g.37525G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1724G>C MANE Select ENSP00000300061.2:p.Trp575Ser
ENST00000300061.2:c.1724G>C ENSP00000300061.2:p.Trp575Ser
NM_001039.3:c.1724G>C NP_001030.2:p.Trp575Ser
NM_001039.4:c.1724G>C MANE Select NP_001030.2:p.Trp575Ser
Search 100 bp 5'
Search 100 bp 3'