Canonical Allele Identifier: CA2918237

Gene: SGCB

Linked Data

• ClinVar Variation Id: 255606
• ClinVar RCV Id: RCV000244974 ; RCV000263039 ; RCV000330019 ; RCV000724882 ; RCV000815228
• dbSNP Id: rs150395645
• ExAC: 4:52890137 C / T
• gnomAD v2: 4-52890137-C-T
• gnomAD v3: 4-52023971-C-T
• gnomAD v4: 4-52023971-C-T
• MyVariant Identifiers: chr4:g.52890137C>T (hg19) ; chr4:g.52023971C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52023971C>T , CM000666.2:g.52023971C>T	GRCh38
NC_000004.11:g.52890137C>T , CM000666.1:g.52890137C>T	GRCh37
NC_000004.10:g.52584894C>T	NCBI36
NG_008891.1:g.19349G>A , LRG_204:g.19349G>A
NG_053164.1:g.1341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.943G>A MANE Select	ENSP00000370839.6:p.Gly315Arg
ENST00000381431.9:c.943G>A	ENSP00000370839.5:p.Gly315Arg
NM_000232.4:c.943G>A , LRG_204t1:c.943G>A	NP_000223.1:p.Gly315Arg
XM_006714049.2:c.646G>A	XP_006714112.1:p.Gly216Arg
XM_011534403.1:c.733G>A	XP_011532705.1:p.Gly245Arg
XM_011534404.1:c.646G>A	XP_011532706.1:p.Gly216Arg
NM_000232.5:c.943G>A MANE Select	NP_000223.1:p.Gly315Arg