Canonical Allele Identifier: CA2213232993
Gene: SCNN1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211396T= , CM000678.2:g.23211396T= GRCh38
NC_000016.9:g.23222717T= , CM000678.1:g.23222717T= GRCh37
NC_000016.8:g.23130218T= NCBI36
NG_011909.1:g.33678T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-638T= MANE Select ENSP00000300061.2:n.1177-638T=
ENST00000300061.2:c.1177-638T= ENSP00000300061.2:n.1177-638T=
NM_001039.3:c.1177-638T= NP_001030.2:n.1177-638T=
NM_001039.4:c.1177-638T= MANE Select NP_001030.2:n.1177-638T=