Canonical Allele Identifier: CA279450307
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1015228301
gnomAD v2: 16-23208078-T-C
gnomAD v3: 16-23196757-T-C
gnomAD v4: 16-23196757-T-C
MyVariant Identifiers: chr16:g.23208078T>C (hg19) chr16:g.23196757T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196757T>C , CM000678.2:g.23196757T>C GRCh38
NC_000016.9:g.23208078T>C , CM000678.1:g.23208078T>C GRCh37
NC_000016.8:g.23115579T>C NCBI36
NG_011909.1:g.19039T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000300061.3:c.914-507T>C MANE Select ENSP00000300061.2:n.914-507T>C
ENST00000300061.2:c.914-507T>C ENSP00000300061.2:n.914-507T>C
NM_001039.3:c.914-507T>C NP_001030.2:n.914-507T>C
NM_001039.4:c.914-507T>C MANE Select NP_001030.2:n.914-507T>C
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