Canonical Allele Identifier: CA2918450

Gene: SGCB

Linked Data

• ClinVar Variation Id: 284933
• ClinVar RCV Id: RCV000399290 ; RCV002059163
• dbSNP Id: rs565862702
• ExAC: 4:52896024 T / C
• gnomAD v2: 4-52896024-T-C
• gnomAD v3: 4-52029858-T-C
• gnomAD v4: 4-52029858-T-C
• MyVariant Identifiers: chr4:g.52896024T>C (hg19) ; chr4:g.52029858T>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029858T>C , CM000666.2:g.52029858T>C	GRCh38
NC_000004.11:g.52896024T>C , CM000666.1:g.52896024T>C	GRCh37
NC_000004.10:g.52590781T>C	NCBI36
NG_008891.1:g.13462A>G , LRG_204:g.13462A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.249A>G MANE Select	ENSP00000370839.6:p.Thr83=
ENST00000381431.9:c.249A>G	ENSP00000370839.5:p.Thr83=
ENST00000506357.5:c.332A>G
ENST00000514133.1:c.326A>G	ENSP00000425818.1:n.326A>G
NM_000232.4:c.249A>G , LRG_204t1:c.249A>G	NP_000223.1:p.Thr83=
XM_006714049.2:c.-49A>G	XP_006714112.1:n.-49A>G
XM_011534403.1:c.39A>G	XP_011532705.1:p.Thr13=
XM_011534404.1:c.-49A>G	XP_011532706.1:n.-49A>G
NM_000232.5:c.249A>G MANE Select	NP_000223.1:p.Thr83=