Canonical Allele Identifier: CA356877911

Gene: SGCB

Linked Data

• ClinVar Variation Id: 597614
• ClinVar RCV Id: RCV000733790 ; RCV001868990
• dbSNP Id: rs1320144493
• gnomAD v2: 4-52899662-T-C
• gnomAD v4: 4-52033496-T-C
• MyVariant Identifiers: chr4:g.52899662T>C (hg19) ; chr4:g.52033496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033496T>C , CM000666.2:g.52033496T>C	GRCh38
NC_000004.11:g.52899662T>C , CM000666.1:g.52899662T>C	GRCh37
NC_000004.10:g.52594419T>C	NCBI36
NG_008891.1:g.9824A>G , LRG_204:g.9824A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.178A>G MANE Select	ENSP00000370839.6:p.Arg60Gly
ENST00000381431.9:c.178A>G	ENSP00000370839.5:p.Arg60Gly
ENST00000506357.5:c.164A>G
ENST00000514133.1:c.145A>G	ENSP00000425818.1:p.Arg49Gly
NM_000232.4:c.178A>G , LRG_204t1:c.178A>G	NP_000223.1:p.Arg60Gly
XM_006714049.2:c.-230A>G	XP_006714112.1:n.-230A>G
XM_011534403.1:c.34-3633A>G	XP_011532705.1:n.34-3633A>G
XM_011534404.1:c.-207A>G	XP_011532706.1:n.-207A>G
NM_000232.5:c.178A>G MANE Select	NP_000223.1:p.Arg60Gly