Canonical Allele Identifier: CA1457434311
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1737463203
gnomAD v3: 4-52038387-C-G
gnomAD v4: 4-52038387-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038387C>G , CM000666.2:g.52038387C>G GRCh38
NC_000004.11:g.52904553C>G , CM000666.1:g.52904553C>G GRCh37
NC_000004.10:g.52599310C>G NCBI36
NG_008891.1:g.4933G>C , LRG_204:g.4933G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-128G>C ENSP00000370839.5:n.-128G>C
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