Canonical Allele Identifier: CA2213223828
Gene: SCNN1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196651A= , CM000678.2:g.23196651A= GRCh38
NC_000016.9:g.23207972A= , CM000678.1:g.23207972A= GRCh37
NC_000016.8:g.23115473A= NCBI36
NG_011909.1:g.18933A=

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-613A= MANE Select ENSP00000300061.2:n.914-613A=
ENST00000300061.2:c.914-613A= ENSP00000300061.2:n.914-613A=
NM_001039.3:c.914-613A= NP_001030.2:n.914-613A=
NM_001039.4:c.914-613A= MANE Select NP_001030.2:n.914-613A=