Canonical Allele Identifier: CA719198847
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1488121338
gnomAD v3: 16-23211505-CAGTT-C
gnomAD v4: 16-23211505-CAGTT-C
MyVariant Identifiers: chr16:g.23222827_23222830del (hg19) chr16:g.23211506_23211509del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211509_23211512del , CM000678.2:g.23211509_23211512del GRCh38
NC_000016.9:g.23222830_23222833del , CM000678.1:g.23222830_23222833del GRCh37
NC_000016.8:g.23130331_23130334del NCBI36
NG_011909.1:g.33791_33794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-525_1177-522del MANE Select ENSP00000300061.2:n.1177-525_1177-522del
ENST00000300061.2:c.1177-525_1177-522del ENSP00000300061.2:n.1177-525_1177-522del
NM_001039.3:c.1177-525_1177-522del NP_001030.2:n.1177-525_1177-522del
NM_001039.4:c.1177-525_1177-522del MANE Select NP_001030.2:n.1177-525_1177-522del
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