Canonical Allele Identifier: CA975678186
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1960076918
gnomAD v3: 16-23211395-G-A
gnomAD v4: 16-23211395-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211395G>A , CM000678.2:g.23211395G>A GRCh38
NC_000016.9:g.23222716G>A , CM000678.1:g.23222716G>A GRCh37
NC_000016.8:g.23130217G>A NCBI36
NG_011909.1:g.33677G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1177-639G>A MANE Select ENSP00000300061.2:n.1177-639G>A
ENST00000300061.2:c.1177-639G>A ENSP00000300061.2:n.1177-639G>A
NM_001039.3:c.1177-639G>A NP_001030.2:n.1177-639G>A
NM_001039.4:c.1177-639G>A MANE Select NP_001030.2:n.1177-639G>A
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