Canonical Allele Identifier: CA2918323

Gene: SGCB

Linked Data

• ClinVar Variation Id: 286721
• ClinVar RCV Id: RCV000391362 ; RCV002519253
• dbSNP Id: rs754898211
• ExAC: 4:52894219 C / T
• gnomAD v2: 4-52894219-C-T
• gnomAD v3: 4-52028053-C-T
• gnomAD v4: 4-52028053-C-T
• MyVariant Identifiers: chr4:g.52894219C>T (hg19) ; chr4:g.52028053C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028053C>T , CM000666.2:g.52028053C>T	GRCh38
NC_000004.11:g.52894219C>T , CM000666.1:g.52894219C>T	GRCh37
NC_000004.10:g.52588976C>T	NCBI36
NG_008891.1:g.15267G>A , LRG_204:g.15267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.668G>A MANE Select	ENSP00000370839.6:p.Arg223His
ENST00000381431.9:c.668G>A	ENSP00000370839.5:p.Arg223His
NM_000232.4:c.668G>A , LRG_204t1:c.668G>A	NP_000223.1:p.Arg223His
XM_006714049.2:c.371G>A	XP_006714112.1:p.Arg124His
XM_011534403.1:c.458G>A	XP_011532705.1:p.Arg153His
XM_011534404.1:c.371G>A	XP_011532706.1:p.Arg124His
NM_000232.5:c.668G>A MANE Select	NP_000223.1:p.Arg223His