Canonical Allele Identifier: CA975678137
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1960075318
gnomAD v3: 16-23211294-T-C
gnomAD v4: 16-23211294-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211294T>C , CM000678.2:g.23211294T>C GRCh38
NC_000016.9:g.23222615T>C , CM000678.1:g.23222615T>C GRCh37
NC_000016.8:g.23130116T>C NCBI36
NG_011909.1:g.33576T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.1177-740T>C MANE Select ENSP00000300061.2:n.1177-740T>C
ENST00000300061.2:c.1177-740T>C ENSP00000300061.2:n.1177-740T>C
NM_001039.3:c.1177-740T>C NP_001030.2:n.1177-740T>C
NM_001039.4:c.1177-740T>C MANE Select NP_001030.2:n.1177-740T>C
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