Canonical Allele Identifier: CA10604818

Gene: SGCB

Linked Data

• ClinVar Variation Id: 284502
• ClinVar RCV Id: RCV000315588 ; RCV000353900 ; RCV000778733 ; RCV000808980
• dbSNP Id: rs752492870
• gnomAD v2: 4-52904395-G-A
• gnomAD v3: 4-52038229-G-A
• gnomAD v4: 4-52038229-G-A
• MyVariant Identifiers: chr4:g.52904395G>A (hg19) ; chr4:g.52038229G>A (hg38)
• PubMed: PMID:7581449 ; PMID:9032047 ; PMID:10993494 ; PMID:15032976 ; PMID:15938573 ; PMID:19770540

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.31C>T MANE Select	ENSP00000370839.6:p.Gln11Ter
ENST00000381431.9:c.31C>T	ENSP00000370839.5:p.Gln11Ter
ENST00000506357.5:c.17C>T
NM_000232.4:c.31C>T , LRG_204t1:c.31C>T	NP_000223.1:p.Gln11Ter
XM_011534403.1:c.31C>T	XP_011532705.1:p.Gln11Ter
NM_000232.5:c.31C>T MANE Select	NP_000223.1:p.Gln11Ter