Canonical Allele Identifier: CA551344263
Gene: SGCB HGNC NCBI

Linked Data

dbSNP Id: rs1168739849
gnomAD v2: 4-52904630-G-C
gnomAD v3: 4-52038464-G-C
gnomAD v4: 4-52038464-G-C
MyVariant Identifiers: chr4:g.52904630G>C (hg19) chr4:g.52038464G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038464G>C , CM000666.2:g.52038464G>C GRCh38
NC_000004.11:g.52904630G>C , CM000666.1:g.52904630G>C GRCh37
NC_000004.10:g.52599387G>C NCBI36
NG_008891.1:g.4856C>G , LRG_204:g.4856C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-205C>G ENSP00000370839.5:n.-205C>G
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