Canonical Allele Identifier: CA719198677
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1400271435
gnomAD v3: 16-23211183-C-T
gnomAD v4: 16-23211183-C-T
MyVariant Identifiers: chr16:g.23222504C>T (hg19) chr16:g.23211183C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23211183C>T , CM000678.2:g.23211183C>T GRCh38
NC_000016.9:g.23222504C>T , CM000678.1:g.23222504C>T GRCh37
NC_000016.8:g.23130005C>T NCBI36
NG_011909.1:g.33465C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.1177-851C>T MANE Select ENSP00000300061.2:n.1177-851C>T
ENST00000300061.2:c.1177-851C>T ENSP00000300061.2:n.1177-851C>T
NM_001039.3:c.1177-851C>T NP_001030.2:n.1177-851C>T
NM_001039.4:c.1177-851C>T MANE Select NP_001030.2:n.1177-851C>T
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