Canonical Allele Identifier: CA2213232908
Gene: SCNN1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211260G= , CM000678.2:g.23211260G= GRCh38
NC_000016.9:g.23222581G= , CM000678.1:g.23222581G= GRCh37
NC_000016.8:g.23130082G= NCBI36
NG_011909.1:g.33542G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-774G= MANE Select ENSP00000300061.2:n.1177-774G=
ENST00000300061.2:c.1177-774G= ENSP00000300061.2:n.1177-774G=
NM_001039.3:c.1177-774G= NP_001030.2:n.1177-774G=
NM_001039.4:c.1177-774G= MANE Select NP_001030.2:n.1177-774G=