Canonical Allele Identifier: CA10609679

Gene: SDCCAG8

Linked Data

• ClinVar Variation Id: 296898
• ClinVar RCV Id: RCV000332065 ; RCV000388987
• dbSNP Id: rs886046327
• gnomAD v2: 1-243419345-T-C
• gnomAD v3: 1-243256043-T-C
• gnomAD v4: 1-243256043-T-C
• MyVariant Identifiers: chr1:g.243419345T>C (hg19) ; chr1:g.243256043T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243256043T>C , CM000663.2:g.243256043T>C	GRCh38
NC_000001.10:g.243419345T>C , CM000663.1:g.243419345T>C	GRCh37
NC_000001.9:g.241485968T>C	NCBI36
NG_027811.1:g.5039T>C
NG_029663.1:g.4364A>G
NG_029663.2:g.4364A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.-131T>C MANE Select	ENSP00000355499.3:n.-131T>C
ENST00000490065.5:n.10T>C
NM_006642.3:c.-131T>C	NP_006633.1:n.-131T>C
XM_005273013.3:c.-131T>C	XP_005273070.1:n.-131T>C
XM_005273022.2:c.-669T>C	XP_005273079.1:n.-669T>C
XM_005273023.3:c.-131T>C	XP_005273080.1:n.-131T>C
XM_006711727.2:c.84+517T>C	XP_006711790.1:n.84+517T>C
XM_006711728.2:c.84+517T>C	XP_006711791.1:n.84+517T>C
XM_006711729.2:c.84+517T>C	XP_006711792.1:n.84+517T>C
XM_011544021.1:c.84+517T>C	XP_011542323.1:n.84+517T>C
XM_011544022.1:c.-131T>C	XP_011542324.1:n.-131T>C
XM_011544023.1:c.84+517T>C	XP_011542325.1:n.84+517T>C
XM_011544024.1:c.84+517T>C	XP_011542326.1:n.84+517T>C
XM_011544025.1:c.84+517T>C	XP_011542327.1:n.84+517T>C
XM_011544026.1:c.84+517T>C	XP_011542328.1:n.84+517T>C
XM_011544027.1:c.84+517T>C	XP_011542329.1:n.84+517T>C
XM_011544028.1:c.84+517T>C	XP_011542330.1:n.84+517T>C
XM_011544029.1:c.84+517T>C	XP_011542331.1:n.84+517T>C
XR_949128.1:n.108+517T>C
NM_001350246.1:c.-1243T>C	NP_001337175.1:n.-1243T>C
NM_001350247.1:c.-1131T>C	NP_001337176.1:n.-1131T>C
NM_001350248.1:c.-131T>C	NP_001337177.1:n.-131T>C
NM_001350249.1:c.-438T>C	NP_001337178.1:n.-438T>C
NM_001350251.1:c.-1504T>C	NP_001337180.1:n.-1504T>C
NM_006642.4:c.-131T>C	NP_006633.1:n.-131T>C
XM_011544026.3:c.84+517T>C	XP_011542328.1:n.84+517T>C
XM_011544028.3:c.84+517T>C	XP_011542330.1:n.84+517T>C
XM_024452548.1:c.-228+517T>C	XP_024308316.1:n.-228+517T>C
NM_006642.5:c.-131T>C MANE Select	NP_006633.1:n.-131T>C
NM_001350246.2:c.-1243T>C	NP_001337175.1:n.-1243T>C
NM_001350247.2:c.-1131T>C	NP_001337176.1:n.-1131T>C
NM_001350248.2:c.-131T>C	NP_001337177.1:n.-131T>C
NM_001350249.2:c.-438T>C	NP_001337178.1:n.-438T>C
NM_001350251.2:c.-1504T>C	NP_001337180.1:n.-1504T>C