Canonical Allele Identifier: CA719190219
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1486251765
gnomAD v3: 16-23196813-G-C
gnomAD v4: 16-23196813-G-C
MyVariant Identifiers: chr16:g.23208134G>C (hg19) chr16:g.23196813G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196813G>C , CM000678.2:g.23196813G>C GRCh38
NC_000016.9:g.23208134G>C , CM000678.1:g.23208134G>C GRCh37
NC_000016.8:g.23115635G>C NCBI36
NG_011909.1:g.19095G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-451G>C MANE Select ENSP00000300061.2:n.914-451G>C
ENST00000300061.2:c.914-451G>C ENSP00000300061.2:n.914-451G>C
NM_001039.3:c.914-451G>C NP_001030.2:n.914-451G>C
NM_001039.4:c.914-451G>C MANE Select NP_001030.2:n.914-451G>C
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