Canonical Allele Identifier: CA2213223814
Gene: SCNN1G HGNC NCBI

Linked Data

dbSNP Id: rs1959798656
gnomAD v4: 16-23196613-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196613G>T , CM000678.2:g.23196613G>T GRCh38
NC_000016.9:g.23207934G>T , CM000678.1:g.23207934G>T GRCh37
NC_000016.8:g.23115435G>T NCBI36
NG_011909.1:g.18895G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-651G>T MANE Select ENSP00000300061.2:n.914-651G>T
ENST00000300061.2:c.914-651G>T ENSP00000300061.2:n.914-651G>T
NM_001039.3:c.914-651G>T NP_001030.2:n.914-651G>T
NM_001039.4:c.914-651G>T MANE Select NP_001030.2:n.914-651G>T
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