Canonical Allele Identifier: CA2918507
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 370775
ClinVar RCV Id: RCV000411828
dbSNP Id: rs747809412
gnomAD v2: 4-52899755-T-A
gnomAD v3: 4-52033589-T-A
gnomAD v4: 4-52033589-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033589T>A , CM000666.2:g.52033589T>A GRCh38
NC_000004.11:g.52899755T>A , CM000666.1:g.52899755T>A GRCh37
NC_000004.10:g.52594512T>A NCBI36
NG_008891.1:g.9731A>T , LRG_204:g.9731A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.85A>T MANE Select ENSP00000370839.6:p.Arg29Ter
ENST00000381431.9:c.85A>T ENSP00000370839.5:p.Arg29Ter
ENST00000506357.5:c.71A>T
ENST00000514133.1:c.52A>T ENSP00000425818.1:p.Arg18Ter
NM_000232.4:c.85A>T , LRG_204t1:c.85A>T NP_000223.1:p.Arg29Ter
XM_011534403.1:c.34-3726A>T XP_011532705.1:n.34-3726A>T
NM_000232.5:c.85A>T MANE Select NP_000223.1:p.Arg29Ter