Canonical Allele Identifier: CA96791919
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1030125515
gnomAD v4: 4-52038447-C-T
MyVariant Identifiers: chr4:g.52904613C>T (hg19) chr4:g.52038447C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038447C>T , CM000666.2:g.52038447C>T GRCh38
NC_000004.11:g.52904613C>T , CM000666.1:g.52904613C>T GRCh37
NC_000004.10:g.52599370C>T NCBI36
NG_008891.1:g.4873G>A , LRG_204:g.4873G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-188G>A ENSP00000370839.5:n.-188G>A
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