Canonical Allele Identifier: CA2632290393
Gene: SCNN1G HGNC NCBI

Linked Data

gnomAD v4: 16-23196605-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23196605G>T , CM000678.2:g.23196605G>T GRCh38
NC_000016.9:g.23207926G>T , CM000678.1:g.23207926G>T GRCh37
NC_000016.8:g.23115427G>T NCBI36
NG_011909.1:g.18887G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000300061.3:c.914-659G>T MANE Select ENSP00000300061.2:n.914-659G>T
ENST00000300061.2:c.914-659G>T ENSP00000300061.2:n.914-659G>T
NM_001039.3:c.914-659G>T NP_001030.2:n.914-659G>T
NM_001039.4:c.914-659G>T MANE Select NP_001030.2:n.914-659G>T
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