Canonical Allele Identifier: CA6909586

Gene: SGCG

Linked Data

• ClinVar Variation Id: 283707
• ClinVar RCV Id: RCV000340955 ; RCV000725317 ; RCV001553764
• dbSNP Id: rs200502077
• ExAC: 13:23778029 G / C
• gnomAD v2: 13-23778029-G-C
• gnomAD v3: 13-23203890-G-C
• gnomAD v4: 13-23203890-G-C
• MyVariant Identifiers: chr13:g.23778029G>C (hg19) ; chr13:g.23203890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203890G>C , CM000675.2:g.23203890G>C	GRCh38
NC_000013.10:g.23778029G>C , CM000675.1:g.23778029G>C	GRCh37
NC_000013.9:g.22676029G>C	NCBI36
NG_008759.1:g.27970G>C , LRG_207:g.27970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.195+1G>C MANE Select	ENSP00000218867.3:n.195+1G>C
ENST00000218867.3:c.195+1G>C	ENSP00000218867.3:n.195+1G>C
NM_000231.2:c.195+1G>C , LRG_207t1:c.195+1G>C	NP_000222.1:n.195+1G>C
XM_005266505.2:c.195+1G>C	XP_005266562.1:n.195+1G>C
XM_006719861.2:c.249+1G>C	XP_006719924.1:n.249+1G>C
XM_006719861.3:c.249+1G>C	XP_006719924.1:n.249+1G>C
XM_024449397.1:c.195+1G>C	XP_024305165.1:n.195+1G>C
NM_000231.3:c.195+1G>C MANE Select	NP_000222.2:n.195+1G>C
NM_001378244.1:c.249+1G>C	NP_001365173.1:n.249+1G>C
NM_001378245.1:c.195+1G>C	NP_001365174.1:n.195+1G>C
NM_001378246.1:c.195+1G>C	NP_001365175.1:n.195+1G>C