Canonical Allele Identifier: CA2918272

Gene: SGCB

Linked Data

• ClinVar Variation Id: 283043
• ClinVar RCV Id: RCV000284183 ; RCV000295248 ; RCV000386817 ; RCV000534489 ; RCV000852968
• dbSNP Id: rs200761715
• ExAC: 4:52890281 G / A
• gnomAD v2: 4-52890281-G-A
• gnomAD v3: 4-52024115-G-A
• gnomAD v4: 4-52024115-G-A
• MyVariant Identifiers: chr4:g.52890281G>A (hg19) ; chr4:g.52024115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52024115G>A , CM000666.2:g.52024115G>A	GRCh38
NC_000004.11:g.52890281G>A , CM000666.1:g.52890281G>A	GRCh37
NC_000004.10:g.52585038G>A	NCBI36
NG_008891.1:g.19205C>T , LRG_204:g.19205C>T
NG_053164.1:g.1197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.799C>T MANE Select	ENSP00000370839.6:p.Arg267Cys
ENST00000381431.9:c.799C>T	ENSP00000370839.5:p.Arg267Cys
NM_000232.4:c.799C>T , LRG_204t1:c.799C>T	NP_000223.1:p.Arg267Cys
XM_006714049.2:c.502C>T	XP_006714112.1:p.Arg168Cys
XM_011534403.1:c.589C>T	XP_011532705.1:p.Arg197Cys
XM_011534404.1:c.502C>T	XP_011532706.1:p.Arg168Cys
NM_000232.5:c.799C>T MANE Select	NP_000223.1:p.Arg267Cys