Canonical Allele Identifier: CA6909568

Gene: SGCG

Linked Data

• ClinVar Variation Id: 1256426
• ClinVar RCV Id: RCV001663768 ; RCV001827570
• dbSNP Id: rs747549369
• ExAC: 13:23777933 C / T
• gnomAD v2: 13-23777933-C-T
• gnomAD v3: 13-23203794-C-T
• gnomAD v4: 13-23203794-C-T
• COSMIC: COSM277253
• MyVariant Identifiers: chr13:g.23777933C>T (hg19) ; chr13:g.23203794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203794C>T , CM000675.2:g.23203794C>T	GRCh38
NC_000013.10:g.23777933C>T , CM000675.1:g.23777933C>T	GRCh37
NC_000013.9:g.22675933C>T	NCBI36
NG_008759.1:g.27874C>T , LRG_207:g.27874C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218867.4:c.100C>T MANE Select	ENSP00000218867.3:p.Arg34Cys
ENST00000218867.3:c.100C>T	ENSP00000218867.3:p.Arg34Cys
NM_000231.2:c.100C>T , LRG_207t1:c.100C>T	NP_000222.1:p.Arg34Cys
XM_005266505.2:c.100C>T	XP_005266562.1:p.Arg34Cys
XM_006719861.2:c.154C>T	XP_006719924.1:p.Arg52Cys
XM_006719861.3:c.154C>T	XP_006719924.1:p.Arg52Cys
XM_024449397.1:c.100C>T	XP_024305165.1:p.Arg34Cys
NM_000231.3:c.100C>T MANE Select	NP_000222.2:p.Arg34Cys
NM_001378244.1:c.154C>T	NP_001365173.1:p.Arg52Cys
NM_001378245.1:c.100C>T	NP_001365174.1:p.Arg34Cys
NM_001378246.1:c.100C>T	NP_001365175.1:p.Arg34Cys