Canonical Allele Identifier: CA96791950
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1217107
ClinVar RCV Id: RCV001587879
dbSNP Id: rs368615487
gnomAD v2: 4-52904615-T-C
gnomAD v3: 4-52038449-T-C
gnomAD v4: 4-52038449-T-C
MyVariant Identifiers: chr4:g.52904615T>C (hg19) chr4:g.52038449T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038449T>C , CM000666.2:g.52038449T>C GRCh38
NC_000004.11:g.52904615T>C , CM000666.1:g.52904615T>C GRCh37
NC_000004.10:g.52599372T>C NCBI36
NG_008891.1:g.4871A>G , LRG_204:g.4871A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-190A>G ENSP00000370839.5:n.-190A>G
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