Canonical Allele Identifier: CA2918305

Gene: SGCB

Linked Data

• dbSNP Id: rs754883035
• ExAC: 4:52894137 C / A
• gnomAD v4: 4-52027971-C-A
• MyVariant Identifiers: chr4:g.52894137C>A (hg19) ; chr4:g.52027971C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52027971C>A , CM000666.2:g.52027971C>A	GRCh38
NC_000004.11:g.52894137C>A , CM000666.1:g.52894137C>A	GRCh37
NC_000004.10:g.52588894C>A	NCBI36
NG_008891.1:g.15349G>T , LRG_204:g.15349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.750G>T MANE Select	ENSP00000370839.6:p.Lys250Asn
ENST00000381431.9:c.750G>T	ENSP00000370839.5:p.Lys250Asn
NM_000232.4:c.750G>T , LRG_204t1:c.750G>T	NP_000223.1:p.Lys250Asn
XM_006714049.2:c.453G>T	XP_006714112.1:p.Lys151Asn
XM_011534403.1:c.540G>T	XP_011532705.1:p.Lys180Asn
XM_011534404.1:c.453G>T	XP_011532706.1:p.Lys151Asn
NM_000232.5:c.750G>T MANE Select	NP_000223.1:p.Lys250Asn