Canonical Allele Identifier: CA2918415

Gene: SGCB

Linked Data

• ClinVar Variation Id: 284136
• ClinVar RCV Id: RCV000400638 ; RCV001247007
• dbSNP Id: rs775409967
• ExAC: 4:52895854 T / C
• gnomAD v2: 4-52895854-T-C
• gnomAD v3: 4-52029688-T-C
• gnomAD v4: 4-52029688-T-C
• MyVariant Identifiers: chr4:g.52895854T>C (hg19) ; chr4:g.52029688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029688T>C , CM000666.2:g.52029688T>C	GRCh38
NC_000004.11:g.52895854T>C , CM000666.1:g.52895854T>C	GRCh37
NC_000004.10:g.52590611T>C	NCBI36
NG_008891.1:g.13632A>G , LRG_204:g.13632A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.419A>G MANE Select	ENSP00000370839.6:p.Asn140Ser
ENST00000381431.9:c.419A>G	ENSP00000370839.5:p.Asn140Ser
ENST00000506357.5:c.502A>G
ENST00000514133.1:c.496A>G	ENSP00000425818.1:n.496A>G
NM_000232.4:c.419A>G , LRG_204t1:c.419A>G	NP_000223.1:p.Asn140Ser
XM_006714049.2:c.122A>G	XP_006714112.1:p.Asn41Ser
XM_011534403.1:c.209A>G	XP_011532705.1:p.Asn70Ser
XM_011534404.1:c.122A>G	XP_011532706.1:p.Asn41Ser
NM_000232.5:c.419A>G MANE Select	NP_000223.1:p.Asn140Ser