Canonical Allele Identifier: CA2918525

Gene: SGCB

Linked Data

• ClinVar Variation Id: 282248
• ClinVar RCV Id: RCV000261367 ; RCV000399677 ; RCV000543057 ; RCV002229741
• dbSNP Id: rs752492870
• ExAC: 4:52904395 G / C
• gnomAD v2: 4-52904395-G-C
• gnomAD v3: 4-52038229-G-C
• gnomAD v4: 4-52038229-G-C
• MyVariant Identifiers: chr4:g.52904395G>C (hg19) ; chr4:g.52038229G>C (hg38)
• PubMed: PMID:9032047 ; PMID:22095924

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038229G>C , CM000666.2:g.52038229G>C	GRCh38
NC_000004.11:g.52904395G>C , CM000666.1:g.52904395G>C	GRCh37
NC_000004.10:g.52599152G>C	NCBI36
NG_008891.1:g.5091C>G , LRG_204:g.5091C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.31C>G MANE Select	ENSP00000370839.6:p.Gln11Glu
ENST00000381431.9:c.31C>G	ENSP00000370839.5:p.Gln11Glu
ENST00000506357.5:c.17C>G
NM_000232.4:c.31C>G , LRG_204t1:c.31C>G	NP_000223.1:p.Gln11Glu
XM_011534403.1:c.31C>G	XP_011532705.1:p.Gln11Glu
NM_000232.5:c.31C>G MANE Select	NP_000223.1:p.Gln11Glu