Canonical Allele Identifier: CA279467694
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs998838226
gnomAD v2: 16-23222490-T-G
gnomAD v3: 16-23211169-T-G
gnomAD v4: 16-23211169-T-G
MyVariant Identifiers: chr16:g.23222490T>G (hg19) chr16:g.23211169T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211169T>G , CM000678.2:g.23211169T>G GRCh38
NC_000016.9:g.23222490T>G , CM000678.1:g.23222490T>G GRCh37
NC_000016.8:g.23129991T>G NCBI36
NG_011909.1:g.33451T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-865T>G MANE Select ENSP00000300061.2:n.1177-865T>G
ENST00000300061.2:c.1177-865T>G ENSP00000300061.2:n.1177-865T>G
NM_001039.3:c.1177-865T>G NP_001030.2:n.1177-865T>G
NM_001039.4:c.1177-865T>G MANE Select NP_001030.2:n.1177-865T>G
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