Canonical Allele Identifier: CA2918435

Gene: SGCB

Linked Data

• ClinVar Variation Id: 1152258
• ClinVar RCV Id: RCV001493521
• dbSNP Id: rs767994334
• ExAC: 4:52895946 T / C
• gnomAD v2: 4-52895946-T-C
• gnomAD v3: 4-52029780-T-C
• gnomAD v4: 4-52029780-T-C
• MyVariant Identifiers: chr4:g.52895946T>C (hg19) ; chr4:g.52029780T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029780T>C , CM000666.2:g.52029780T>C	GRCh38
NC_000004.11:g.52895946T>C , CM000666.1:g.52895946T>C	GRCh37
NC_000004.10:g.52590703T>C	NCBI36
NG_008891.1:g.13540A>G , LRG_204:g.13540A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.327A>G MANE Select	ENSP00000370839.6:p.Arg109=
ENST00000381431.9:c.327A>G	ENSP00000370839.5:p.Arg109=
ENST00000506357.5:c.410A>G
ENST00000514133.1:c.404A>G	ENSP00000425818.1:n.404A>G
NM_000232.4:c.327A>G , LRG_204t1:c.327A>G	NP_000223.1:p.Arg109=
XM_006714049.2:c.30A>G	XP_006714112.1:p.Arg10=
XM_011534403.1:c.117A>G	XP_011532705.1:p.Arg39=
XM_011534404.1:c.30A>G	XP_011532706.1:p.Arg10=
NM_000232.5:c.327A>G MANE Select	NP_000223.1:p.Arg109=