Canonical Allele Identifier: CA10604647

Gene: SGCG

Linked Data

• ClinVar Variation Id: 283980
• ClinVar RCV Id: RCV000268438 ; RCV002265724 ; RCV002518901
• dbSNP Id: rs886042757
• gnomAD v4: 13-23279357-A-G
• MyVariant Identifiers: chr13:g.23853496A>G (hg19) ; chr13:g.23279357A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23279357A>G , CM000675.2:g.23279357A>G	GRCh38
NC_000013.10:g.23853496A>G , CM000675.1:g.23853496A>G	GRCh37
NC_000013.9:g.22751496A>G	NCBI36
NG_008759.1:g.103437A>G , LRG_207:g.103437A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.386-2A>G MANE Select	ENSP00000218867.3:n.386-2A>G
ENST00000218867.3:c.386-2A>G	ENSP00000218867.3:n.386-2A>G
NM_000231.2:c.386-2A>G , LRG_207t1:c.386-2A>G	NP_000222.1:n.386-2A>G
XM_005266505.2:c.386-2A>G	XP_005266562.1:n.386-2A>G
XM_006719861.2:c.440-2A>G	XP_006719924.1:n.440-2A>G
XM_006719861.3:c.440-2A>G	XP_006719924.1:n.440-2A>G
XM_024449397.1:c.386-2A>G	XP_024305165.1:n.386-2A>G
NM_000231.3:c.386-2A>G MANE Select	NP_000222.2:n.386-2A>G
NM_001378244.1:c.440-2A>G	NP_001365173.1:n.440-2A>G
NM_001378245.1:c.386-2A>G	NP_001365174.1:n.386-2A>G
NM_001378246.1:c.386-2A>G	NP_001365175.1:n.386-2A>G