Canonical Allele Identifier: CA719198692
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1459985085

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211188G>A , CM000678.2:g.23211188G>A GRCh38
NC_000016.9:g.23222509G>A , CM000678.1:g.23222509G>A GRCh37
NC_000016.8:g.23130010G>A NCBI36
NG_011909.1:g.33470G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-846G>A MANE Select ENSP00000300061.2:n.1177-846G>A
ENST00000300061.2:c.1177-846G>A ENSP00000300061.2:n.1177-846G>A
NM_001039.3:c.1177-846G>A NP_001030.2:n.1177-846G>A
NM_001039.4:c.1177-846G>A MANE Select NP_001030.2:n.1177-846G>A