Canonical Allele Identifier: CA395103534
Gene: SCNN1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23215240C>G , CM000678.2:g.23215240C>G GRCh38
NC_000016.9:g.23226561C>G , CM000678.1:g.23226561C>G GRCh37
NC_000016.8:g.23134062C>G NCBI36
NG_011909.1:g.37522C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1721C>G MANE Select ENSP00000300061.2:p.Ala574Gly
ENST00000300061.2:c.1721C>G ENSP00000300061.2:p.Ala574Gly
NM_001039.3:c.1721C>G NP_001030.2:p.Ala574Gly
NM_001039.4:c.1721C>G MANE Select NP_001030.2:p.Ala574Gly