Canonical Allele Identifier: CA2697546693

Gene: SGCB

Linked Data

• ClinVar Variation Id: 2701395
• ClinVar RCV Id: RCV003510537

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033420C>G , CM000666.2:g.52033420C>G	GRCh38
NC_000004.11:g.52899586C>G , CM000666.1:g.52899586C>G	GRCh37
NC_000004.10:g.52594343C>G	NCBI36
NG_008891.1:g.9900G>C , LRG_204:g.9900G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.243+11G>C MANE Select	ENSP00000370839.6:n.243+11G>C
ENST00000381431.9:c.243+11G>C	ENSP00000370839.5:n.243+11G>C
ENST00000506357.5:c.229+11G>C
ENST00000514133.1:c.210+11G>C	ENSP00000425818.1:n.210+11G>C
NM_000232.4:c.243+11G>C , LRG_204t1:c.243+11G>C	NP_000223.1:n.243+11G>C
XM_006714049.2:c.-165+11G>C	XP_006714112.1:n.-165+11G>C
XM_011534403.1:c.34-3557G>C	XP_011532705.1:n.34-3557G>C
XM_011534404.1:c.-142+11G>C	XP_011532706.1:n.-142+11G>C
NM_000232.5:c.243+11G>C MANE Select	NP_000223.1:n.243+11G>C