Canonical Allele Identifier: CA10605972

Gene: SGCB

Linked Data

• ClinVar Variation Id: 288114
• ClinVar RCV Id: RCV000308444 ; RCV002518014
• dbSNP Id: rs886043810
• gnomAD v2: 4-52904417-T-C
• gnomAD v3: 4-52038251-T-C
• gnomAD v4: 4-52038251-T-C
• MyVariant Identifiers: chr4:g.52904417T>C (hg19) ; chr4:g.52038251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52038251T>C , CM000666.2:g.52038251T>C	GRCh38
NC_000004.11:g.52904417T>C , CM000666.1:g.52904417T>C	GRCh37
NC_000004.10:g.52599174T>C	NCBI36
NG_008891.1:g.5069A>G , LRG_204:g.5069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.9A>G MANE Select	ENSP00000370839.6:p.Ala3=
ENST00000381431.9:c.9A>G	ENSP00000370839.5:p.Ala3=
NM_000232.4:c.9A>G , LRG_204t1:c.9A>G	NP_000223.1:p.Ala3=
XM_011534403.1:c.9A>G	XP_011532705.1:p.Ala3=
NM_000232.5:c.9A>G MANE Select	NP_000223.1:p.Ala3=