Canonical Allele Identifier: CA356876310

Gene: SGCB

Linked Data

• ClinVar Variation Id: 1423006
• ClinVar RCV Id: RCV001926406
• dbSNP Id: rs2109370086
• MyVariant Identifiers: chr4:g.52894261G>A (hg19) ; chr4:g.52028095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028095G>A , CM000666.2:g.52028095G>A	GRCh38
NC_000004.11:g.52894261G>A , CM000666.1:g.52894261G>A	GRCh37
NC_000004.10:g.52589018G>A	NCBI36
NG_008891.1:g.15225C>T , LRG_204:g.15225C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.626C>T MANE Select	ENSP00000370839.6:p.Thr209Ile
ENST00000381431.9:c.626C>T	ENSP00000370839.5:p.Thr209Ile
NM_000232.4:c.626C>T , LRG_204t1:c.626C>T	NP_000223.1:p.Thr209Ile
XM_006714049.2:c.329C>T	XP_006714112.1:p.Thr110Ile
XM_011534403.1:c.416C>T	XP_011532705.1:p.Thr139Ile
XM_011534404.1:c.329C>T	XP_011532706.1:p.Thr110Ile
NM_000232.5:c.626C>T MANE Select	NP_000223.1:p.Thr209Ile