Canonical Allele Identifier: CA796086514
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1165803417
gnomAD v4: 4-52038320-A-G
MyVariant Identifiers: chr4:g.52904486A>G (hg19) chr4:g.52038320A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038320A>G , CM000666.2:g.52038320A>G GRCh38
NC_000004.11:g.52904486A>G , CM000666.1:g.52904486A>G GRCh37
NC_000004.10:g.52599243A>G NCBI36
NG_008891.1:g.5000T>C , LRG_204:g.5000T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-61T>C ENSP00000370839.5:n.-61T>C
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