Canonical Allele Identifier: CA551344210
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1405059342
gnomAD v2: 4-52904500-C-A
gnomAD v3: 4-52038334-C-A
gnomAD v4: 4-52038334-C-A
MyVariant Identifiers: chr4:g.52904500C>A (hg19) chr4:g.52038334C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038334C>A , CM000666.2:g.52038334C>A GRCh38
NC_000004.11:g.52904500C>A , CM000666.1:g.52904500C>A GRCh37
NC_000004.10:g.52599257C>A NCBI36
NG_008891.1:g.4986G>T , LRG_204:g.4986G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-75G>T ENSP00000370839.5:n.-75G>T
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