Canonical Allele Identifier: CA202230

Gene: SGCB

Linked Data

• ClinVar Variation Id: 42035
• ClinVar RCV Id: RCV000177020 ; RCV000271872 ; RCV000340831 ; RCV001267013
• dbSNP Id: rs150518260
• ExAC: 4:52895932 G / A
• gnomAD v2: 4-52895932-G-A
• gnomAD v3: 4-52029766-G-A
• gnomAD v4: 4-52029766-G-A
• MyVariant Identifiers: chr4:g.52895932G>A (hg19) ; chr4:g.52029766G>A (hg38)
• PubMed: PMID:9032047 ; PMID:10942431 ; PMID:10993494 ; PMID:18285821 ; PMID:18996010 ; PMID:20071171 ; PMID:22095924 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029766G>A , CM000666.2:g.52029766G>A	GRCh38
NC_000004.11:g.52895932G>A , CM000666.1:g.52895932G>A	GRCh37
NC_000004.10:g.52590689G>A	NCBI36
NG_008891.1:g.13554C>T , LRG_204:g.13554C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.341C>T MANE Select	ENSP00000370839.6:p.Ser114Phe
ENST00000381431.9:c.341C>T	ENSP00000370839.5:p.Ser114Phe
ENST00000506357.5:c.424C>T
ENST00000514133.1:c.418C>T	ENSP00000425818.1:n.418C>T
NM_000232.4:c.341C>T , LRG_204t1:c.341C>T	NP_000223.1:p.Ser114Phe
XM_006714049.2:c.44C>T	XP_006714112.1:p.Ser15Phe
XM_011534403.1:c.131C>T	XP_011532705.1:p.Ser44Phe
XM_011534404.1:c.44C>T	XP_011532706.1:p.Ser15Phe
NM_000232.5:c.341C>T MANE Select	NP_000223.1:p.Ser114Phe