Canonical Allele Identifier: CA395094964
Gene: SCNN1G HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.23189642G>C
GRCh37 chr16:g.23200963G>C
Revel Score:
ENST00000300061 (MANE Select) 0.030
ClinVar RCV:
RCV001116637
RCV001116638
ClinVar Variation:
885190
dbSNP:
5738
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23189642G>C , CM000678.2:g.23189642G>C GRCh38
NC_000016.9:g.23200963G>C , CM000678.1:g.23200963G>C GRCh37
NC_000016.8:g.23108464G>C NCBI36
NG_011909.1:g.11924G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.589G>C MANE Select ENSP00000300061.2:p.Glu197Gln
ENST00000300061.2:c.589G>C ENSP00000300061.2:p.Glu197Gln
NM_001039.3:c.589G>C NP_001030.2:p.Glu197Gln
NM_001039.4:c.589G>C MANE Select NP_001030.2:p.Glu197Gln
Search 100 bp 5'
Search 100 bp 3'