Canonical Allele Identifier: CA395103525
Gene: SCNN1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215237G>C , CM000678.2:g.23215237G>C GRCh38
NC_000016.9:g.23226558G>C , CM000678.1:g.23226558G>C GRCh37
NC_000016.8:g.23134059G>C NCBI36
NG_011909.1:g.37519G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1718G>C MANE Select ENSP00000300061.2:p.Trp573Ser
ENST00000300061.2:c.1718G>C ENSP00000300061.2:p.Trp573Ser
NM_001039.3:c.1718G>C NP_001030.2:p.Trp573Ser
NM_001039.4:c.1718G>C MANE Select NP_001030.2:p.Trp573Ser