Canonical Allele Identifier: CA2918308

Gene: SGCB

Linked Data

• dbSNP Id: rs747907287
• ExAC: 4:52894151 T / C
• gnomAD v2: 4-52894151-T-C
• gnomAD v4: 4-52027985-T-C
• MyVariant Identifiers: chr4:g.52894151T>C (hg19) ; chr4:g.52027985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027985T>C , CM000666.2:g.52027985T>C	GRCh38
NC_000004.11:g.52894151T>C , CM000666.1:g.52894151T>C	GRCh37
NC_000004.10:g.52588908T>C	NCBI36
NG_008891.1:g.15335A>G , LRG_204:g.15335A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381431.10:c.736A>G MANE Select	ENSP00000370839.6:p.Asn246Asp
ENST00000381431.9:c.736A>G	ENSP00000370839.5:p.Asn246Asp
NM_000232.4:c.736A>G , LRG_204t1:c.736A>G	NP_000223.1:p.Asn246Asp
XM_006714049.2:c.439A>G	XP_006714112.1:p.Asn147Asp
XM_011534403.1:c.526A>G	XP_011532705.1:p.Asn176Asp
XM_011534404.1:c.439A>G	XP_011532706.1:p.Asn147Asp
NM_000232.5:c.736A>G MANE Select	NP_000223.1:p.Asn246Asp