Canonical Allele Identifier: CA96791986
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs369184242
gnomAD v3: 4-52038473-C-T
gnomAD v4: 4-52038473-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038473C>T , CM000666.2:g.52038473C>T GRCh38
NC_000004.11:g.52904639C>T , CM000666.1:g.52904639C>T GRCh37
NC_000004.10:g.52599396C>T NCBI36
NG_008891.1:g.4847G>A , LRG_204:g.4847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-214G>A ENSP00000370839.5:n.-214G>A