Canonical Allele Identifier: CA2632290406
Gene: SCNN1G HGNC NCBI

Linked Data

gnomAD v4: 16-23196650-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196650C>G , CM000678.2:g.23196650C>G GRCh38
NC_000016.9:g.23207971C>G , CM000678.1:g.23207971C>G GRCh37
NC_000016.8:g.23115472C>G NCBI36
NG_011909.1:g.18932C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-614C>G MANE Select ENSP00000300061.2:n.914-614C>G
ENST00000300061.2:c.914-614C>G ENSP00000300061.2:n.914-614C>G
NM_001039.3:c.914-614C>G NP_001030.2:n.914-614C>G
NM_001039.4:c.914-614C>G MANE Select NP_001030.2:n.914-614C>G
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