Canonical Allele Identifier: CA96791782
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs896242085
gnomAD v2: 4-52904473-C-T
gnomAD v3: 4-52038307-C-T
gnomAD v4: 4-52038307-C-T
MyVariant Identifiers: chr4:g.52904473C>T (hg19) chr4:g.52038307C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038307C>T , CM000666.2:g.52038307C>T GRCh38
NC_000004.11:g.52904473C>T , CM000666.1:g.52904473C>T GRCh37
NC_000004.10:g.52599230C>T NCBI36
NG_008891.1:g.5013G>A , LRG_204:g.5013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-48G>A ENSP00000370839.5:n.-48G>A
NM_000232.4:c.-48G>A , LRG_204t1:c.-48G>A NP_000223.1:n.-48G>A
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