Canonical Allele Identifier: CA2213233034
Gene: SCNN1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211452G= , CM000678.2:g.23211452G= GRCh38
NC_000016.9:g.23222773G= , CM000678.1:g.23222773G= GRCh37
NC_000016.8:g.23130274G= NCBI36
NG_011909.1:g.33734G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-582G= MANE Select ENSP00000300061.2:n.1177-582G=
ENST00000300061.2:c.1177-582G= ENSP00000300061.2:n.1177-582G=
NM_001039.3:c.1177-582G= NP_001030.2:n.1177-582G=
NM_001039.4:c.1177-582G= MANE Select NP_001030.2:n.1177-582G=