Canonical Allele Identifier: CA658796429

Gene: SGCB

Linked Data

• ClinVar Variation Id: 499034
• ClinVar RCV Id: RCV000595753 ; RCV001452701
• dbSNP Id: rs1553940172
• gnomAD v4: 4-52028931-A-G
• MyVariant Identifiers: chr4:g.52895097A>G (hg19) ; chr4:g.52028931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028931A>G , CM000666.2:g.52028931A>G	GRCh38
NC_000004.11:g.52895097A>G , CM000666.1:g.52895097A>G	GRCh37
NC_000004.10:g.52589854A>G	NCBI36
NG_008891.1:g.14389T>C , LRG_204:g.14389T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.430-10T>C MANE Select	ENSP00000370839.6:n.430-10T>C
ENST00000381431.9:c.430-10T>C	ENSP00000370839.5:n.430-10T>C
ENST00000506357.5:c.513-10T>C
ENST00000514133.1:c.507-10T>C	ENSP00000425818.1:n.507-10T>C
NM_000232.4:c.430-10T>C , LRG_204t1:c.430-10T>C	NP_000223.1:n.430-10T>C
XM_006714049.2:c.133-10T>C	XP_006714112.1:n.133-10T>C
XM_011534403.1:c.220-10T>C	XP_011532705.1:n.220-10T>C
XM_011534404.1:c.133-10T>C	XP_011532706.1:n.133-10T>C
NM_000232.5:c.430-10T>C MANE Select	NP_000223.1:n.430-10T>C