Canonical Allele Identifier: CA551651124

Gene: SGCB

Linked Data

• dbSNP Id: rs1297039310
• gnomAD v2: 4-52899557-C-T
• gnomAD v3: 4-52033391-C-T
• gnomAD v4: 4-52033391-C-T
• MyVariant Identifiers: chr4:g.52899557C>T (hg19) ; chr4:g.52033391C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033391C>T , CM000666.2:g.52033391C>T	GRCh38
NC_000004.11:g.52899557C>T , CM000666.1:g.52899557C>T	GRCh37
NC_000004.10:g.52594314C>T	NCBI36
NG_008891.1:g.9929G>A , LRG_204:g.9929G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.243+40G>A MANE Select	ENSP00000370839.6:n.243+40G>A
ENST00000381431.9:c.243+40G>A	ENSP00000370839.5:n.243+40G>A
ENST00000506357.5:c.229+40G>A
ENST00000514133.1:c.210+40G>A	ENSP00000425818.1:n.210+40G>A
NM_000232.4:c.243+40G>A , LRG_204t1:c.243+40G>A	NP_000223.1:n.243+40G>A
XM_006714049.2:c.-165+40G>A	XP_006714112.1:n.-165+40G>A
XM_011534403.1:c.34-3528G>A	XP_011532705.1:n.34-3528G>A
XM_011534404.1:c.-142+40G>A	XP_011532706.1:n.-142+40G>A
NM_000232.5:c.243+40G>A MANE Select	NP_000223.1:n.243+40G>A