Canonical Allele Identifier: CA279450123
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1056092267
gnomAD v3: 16-23196611-T-A
gnomAD v4: 16-23196611-T-A
MyVariant Identifiers: chr16:g.23207932T>A (hg19) chr16:g.23196611T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196611T>A , CM000678.2:g.23196611T>A GRCh38
NC_000016.9:g.23207932T>A , CM000678.1:g.23207932T>A GRCh37
NC_000016.8:g.23115433T>A NCBI36
NG_011909.1:g.18893T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.914-653T>A MANE Select ENSP00000300061.2:n.914-653T>A
ENST00000300061.2:c.914-653T>A ENSP00000300061.2:n.914-653T>A
NM_001039.3:c.914-653T>A NP_001030.2:n.914-653T>A
NM_001039.4:c.914-653T>A MANE Select NP_001030.2:n.914-653T>A
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