Canonical Allele Identifier: CA551651126

Gene: SGCB

Linked Data

• dbSNP Id: rs1223771410
• gnomAD v2: 4-52899561-A-C
• gnomAD v4: 4-52033395-A-C
• MyVariant Identifiers: chr4:g.52899561A>C (hg19) ; chr4:g.52033395A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52033395A>C , CM000666.2:g.52033395A>C	GRCh38
NC_000004.11:g.52899561A>C , CM000666.1:g.52899561A>C	GRCh37
NC_000004.10:g.52594318A>C	NCBI36
NG_008891.1:g.9925T>G , LRG_204:g.9925T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.243+36T>G MANE Select	ENSP00000370839.6:n.243+36T>G
ENST00000381431.9:c.243+36T>G	ENSP00000370839.5:n.243+36T>G
ENST00000506357.5:c.229+36T>G
ENST00000514133.1:c.210+36T>G	ENSP00000425818.1:n.210+36T>G
NM_000232.4:c.243+36T>G , LRG_204t1:c.243+36T>G	NP_000223.1:n.243+36T>G
XM_006714049.2:c.-165+36T>G	XP_006714112.1:n.-165+36T>G
XM_011534403.1:c.34-3532T>G	XP_011532705.1:n.34-3532T>G
XM_011534404.1:c.-142+36T>G	XP_011532706.1:n.-142+36T>G
NM_000232.5:c.243+36T>G MANE Select	NP_000223.1:n.243+36T>G