Canonical Allele Identifier: CA2918334

Gene: SGCB

Linked Data

• ClinVar Variation Id: 370115
• ClinVar RCV Id: RCV000411845
• dbSNP Id: rs780596734
• ExAC: 4:52894267 T / C
• gnomAD v2: 4-52894267-T-C
• gnomAD v3: 4-52028101-T-C
• gnomAD v4: 4-52028101-T-C
• MyVariant Identifiers: chr4:g.52894267T>C (hg19) ; chr4:g.52028101T>C (hg38)
• PubMed: PMID:12566530 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028101T>C , CM000666.2:g.52028101T>C	GRCh38
NC_000004.11:g.52894267T>C , CM000666.1:g.52894267T>C	GRCh37
NC_000004.10:g.52589024T>C	NCBI36
NG_008891.1:g.15219A>G , LRG_204:g.15219A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.622-2A>G MANE Select	ENSP00000370839.6:n.622-2A>G
ENST00000381431.9:c.622-2A>G	ENSP00000370839.5:n.622-2A>G
NM_000232.4:c.622-2A>G , LRG_204t1:c.622-2A>G	NP_000223.1:n.622-2A>G
XM_006714049.2:c.325-2A>G	XP_006714112.1:n.325-2A>G
XM_011534403.1:c.412-2A>G	XP_011532705.1:n.412-2A>G
XM_011534404.1:c.325-2A>G	XP_011532706.1:n.325-2A>G
NM_000232.5:c.622-2A>G MANE Select	NP_000223.1:n.622-2A>G