Canonical Allele Identifier: CA356877530

Gene: SGCB

Linked Data

• ClinVar Variation Id: 1076257
• ClinVar RCV Id: RCV001390088
• dbSNP Id: rs2109372060
• gnomAD v4: 4-52029846-C-T
• MyVariant Identifiers: chr4:g.52896012C>T (hg19) ; chr4:g.52029846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029846C>T , CM000666.2:g.52029846C>T	GRCh38
NC_000004.11:g.52896012C>T , CM000666.1:g.52896012C>T	GRCh37
NC_000004.10:g.52590769C>T	NCBI36
NG_008891.1:g.13474G>A , LRG_204:g.13474G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.261G>A MANE Select	ENSP00000370839.6:p.Trp87Ter
ENST00000381431.9:c.261G>A	ENSP00000370839.5:p.Trp87Ter
ENST00000506357.5:c.344G>A
ENST00000514133.1:c.338G>A	ENSP00000425818.1:n.338G>A
NM_000232.4:c.261G>A , LRG_204t1:c.261G>A	NP_000223.1:p.Trp87Ter
XM_006714049.2:c.-37G>A	XP_006714112.1:n.-37G>A
XM_011534403.1:c.51G>A	XP_011532705.1:p.Trp17Ter
XM_011534404.1:c.-37G>A	XP_011532706.1:n.-37G>A
NM_000232.5:c.261G>A MANE Select	NP_000223.1:p.Trp87Ter