Canonical Allele Identifier: CA439274367
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 1127775
ClinVar RCV Id: RCV001460287
dbSNP Id: rs1335790481
MyVariant Identifiers: chr4:g.52895955G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029789G>C , CM000666.2:g.52029789G>C GRCh38
NC_000004.11:g.52895955G>C , CM000666.1:g.52895955G>C GRCh37
NC_000004.10:g.52590712G>C NCBI36
NG_008891.1:g.13531C>G , LRG_204:g.13531C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.318C>G MANE Select ENSP00000370839.6:p.Gly106=
ENST00000381431.9:c.318C>G ENSP00000370839.5:p.Gly106=
ENST00000506357.5:c.401C>G
ENST00000514133.1:c.395C>G ENSP00000425818.1:n.395C>G
NM_000232.4:c.318C>G , LRG_204t1:c.318C>G NP_000223.1:p.Gly106=
XM_006714049.2:c.21C>G XP_006714112.1:p.Gly7=
XM_011534403.1:c.108C>G XP_011532705.1:p.Gly36=
XM_011534404.1:c.21C>G XP_011532706.1:p.Gly7=
NM_000232.5:c.318C>G MANE Select NP_000223.1:p.Gly106=
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