Canonical Allele Identifier: CA10621155
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 348888
ClinVar RCV Id: RCV000293054 RCV000338646
dbSNP Id: rs535392972
gnomAD v2: 4-52904484-G-C
gnomAD v3: 4-52038318-G-C
gnomAD v4: 4-52038318-G-C
MyVariant Identifiers: chr4:g.52904484G>C (hg19) chr4:g.52038318G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52038318G>C , CM000666.2:g.52038318G>C GRCh38
NC_000004.11:g.52904484G>C , CM000666.1:g.52904484G>C GRCh37
NC_000004.10:g.52599241G>C NCBI36
NG_008891.1:g.5002C>G , LRG_204:g.5002C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.9:c.-59C>G ENSP00000370839.5:n.-59C>G
NM_000232.4:c.-59C>G , LRG_204t1:c.-59C>G NP_000223.1:n.-59C>G
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