Canonical Allele Identifier: CA2806257864
Gene: SCNN1G HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196622T>C , CM000678.2:g.23196622T>C GRCh38
NC_000016.9:g.23207943T>C , CM000678.1:g.23207943T>C GRCh37
NC_000016.8:g.23115444T>C NCBI36
NG_011909.1:g.18904T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-642T>C MANE Select ENSP00000300061.2:n.914-642T>C
ENST00000300061.2:c.914-642T>C ENSP00000300061.2:n.914-642T>C
NM_001039.3:c.914-642T>C NP_001030.2:n.914-642T>C
NM_001039.4:c.914-642T>C MANE Select NP_001030.2:n.914-642T>C
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