Canonical Allele Identifier: CA975705353
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1391706166
gnomAD v3: 16-23196749-A-C
gnomAD v4: 16-23196749-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196749A>C , CM000678.2:g.23196749A>C GRCh38
NC_000016.9:g.23208070A>C , CM000678.1:g.23208070A>C GRCh37
NC_000016.8:g.23115571A>C NCBI36
NG_011909.1:g.19031A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-515A>C MANE Select ENSP00000300061.2:n.914-515A>C
ENST00000300061.2:c.914-515A>C ENSP00000300061.2:n.914-515A>C
NM_001039.3:c.914-515A>C NP_001030.2:n.914-515A>C
NM_001039.4:c.914-515A>C MANE Select NP_001030.2:n.914-515A>C
Search 100 bp 5'
Search 100 bp 3'