Canonical Allele Identifier: CA119849

Gene: SGCB

Linked Data

• ClinVar Variation Id: 8712
• ClinVar RCV Id: RCV000009250 ; RCV000598498
• dbSNP Id: rs28936383
• gnomAD v2: 4-52895065-G-C
• gnomAD v3: 4-52028899-G-C
• gnomAD v4: 4-52028899-G-C
• MyVariant Identifiers: chr4:g.52895065G>C (hg19) ; chr4:g.52028899G>C (hg38)
• PubMed: PMID:7581448 ; PMID:9565988 ; PMID:21480868 ; PMID:22095924 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028899G>C , CM000666.2:g.52028899G>C	GRCh38
NC_000004.11:g.52895065G>C , CM000666.1:g.52895065G>C	GRCh37
NC_000004.10:g.52589822G>C	NCBI36
NG_008891.1:g.14421C>G , LRG_204:g.14421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.452C>G MANE Select	ENSP00000370839.6:p.Thr151Arg
ENST00000381431.9:c.452C>G	ENSP00000370839.5:p.Thr151Arg
ENST00000506357.5:c.535C>G
ENST00000514133.1:c.529C>G	ENSP00000425818.1:n.529C>G
NM_000232.4:c.452C>G , LRG_204t1:c.452C>G	NP_000223.1:p.Thr151Arg
XM_006714049.2:c.155C>G	XP_006714112.1:p.Thr52Arg
XM_011534403.1:c.242C>G	XP_011532705.1:p.Thr81Arg
XM_011534404.1:c.155C>G	XP_011532706.1:p.Thr52Arg
NM_000232.5:c.452C>G MANE Select	NP_000223.1:p.Thr151Arg