Canonical Allele Identifier: CA207867

Gene: SDCCAG8

Linked Data

• ClinVar Variation Id: 212141
• ClinVar RCV Id: RCV000194004 ; RCV001731515 ; RCV002517977 ; RCV004530147
• dbSNP Id: rs797045948
• MyVariant Identifiers: chr1:g.243456413G>A (hg19) ; chr1:g.243293111G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.243293111G>A , CM000663.2:g.243293111G>A	GRCh38
NC_000001.10:g.243456413G>A , CM000663.1:g.243456413G>A	GRCh37
NC_000001.9:g.241523036G>A	NCBI36
NG_027811.1:g.42107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366541.8:c.567G>A MANE Select	ENSP00000355499.3:p.Trp189Ter
ENST00000366541.7:c.567G>A	ENSP00000355499.3:p.Trp189Ter
ENST00000435549.1:c.15+6714G>A	ENSP00000410200.1:n.15+6714G>A
ENST00000476722.6:c.65G>A
ENST00000482234.1:n.300G>A
NM_006642.3:c.567G>A	NP_006633.1:p.Trp189Ter
XM_005273013.3:c.546+6714G>A	XP_005273070.1:n.546+6714G>A
XM_005273018.1:c.252+6714G>A	XP_005273075.1:n.252+6714G>A
XM_005273022.2:c.8+6714G>A	XP_005273079.1:n.8+6714G>A
XM_005273023.3:c.567G>A	XP_005273080.1:p.Trp189Ter
XM_006711727.2:c.597G>A	XP_006711790.1:p.Trp199Ter
XM_006711728.2:c.576+6714G>A	XP_006711791.1:n.576+6714G>A
XM_006711729.2:c.597G>A	XP_006711792.1:p.Trp199Ter
XM_011544021.1:c.597G>A	XP_011542323.1:p.Trp199Ter
XM_011544022.1:c.567G>A	XP_011542324.1:p.Trp189Ter
XM_011544023.1:c.597G>A	XP_011542325.1:p.Trp199Ter
XM_011544024.1:c.597G>A	XP_011542326.1:p.Trp199Ter
XM_011544025.1:c.597G>A	XP_011542327.1:p.Trp199Ter
XM_011544026.1:c.597G>A	XP_011542328.1:p.Trp199Ter
XM_011544027.1:c.576+6714G>A	XP_011542329.1:n.576+6714G>A
XM_011544028.1:c.576+6714G>A	XP_011542330.1:n.576+6714G>A
XM_011544029.1:c.597G>A	XP_011542331.1:p.Trp199Ter
XR_949128.1:n.621G>A
NM_001350246.1:c.-546G>A	NP_001337175.1:n.-546G>A
NM_001350247.1:c.-434G>A	NP_001337176.1:n.-434G>A
NM_001350248.1:c.567G>A	NP_001337177.1:p.Trp189Ter
NM_001350249.1:c.273G>A	NP_001337178.1:p.Trp91Ter
NM_001350251.1:c.-807G>A	NP_001337180.1:n.-807G>A
NM_006642.4:c.567G>A	NP_006633.1:p.Trp189Ter
XM_005273013.5:c.546+6714G>A	XP_005273070.1:n.546+6714G>A
XM_005273018.2:c.252+6714G>A	XP_005273075.1:n.252+6714G>A
XM_005273022.4:c.8+6714G>A	XP_005273079.1:n.8+6714G>A
XM_005273023.5:c.567G>A	XP_005273080.1:p.Trp189Ter
XM_011544026.3:c.597G>A	XP_011542328.1:p.Trp199Ter
XM_011544028.3:c.576+6714G>A	XP_011542330.1:n.576+6714G>A
XM_017000104.2:c.546+6714G>A	XP_016855593.1:n.546+6714G>A
XM_017000105.2:c.567G>A	XP_016855594.1:p.Trp189Ter
XM_024452537.1:c.273G>A	XP_024308305.1:p.Trp91Ter
XM_024452539.1:c.273G>A	XP_024308307.1:p.Trp91Ter
XM_024452540.1:c.273G>A	XP_024308308.1:p.Trp91Ter
XM_024452547.1:c.273G>A	XP_024308315.1:p.Trp91Ter
XM_024452548.1:c.273G>A	XP_024308316.1:p.Trp91Ter
XM_024452549.1:c.273G>A	XP_024308317.1:p.Trp91Ter
XR_002958955.1:n.513G>A
XR_002958956.1:n.513G>A
XR_002958965.1:n.513G>A
NM_006642.5:c.567G>A MANE Select	NP_006633.1:p.Trp189Ter
NM_001350246.2:c.-546G>A	NP_001337175.1:n.-546G>A
NM_001350247.2:c.-434G>A	NP_001337176.1:n.-434G>A
NM_001350248.2:c.567G>A	NP_001337177.1:p.Trp189Ter
NM_001350249.2:c.273G>A	NP_001337178.1:p.Trp91Ter
NM_001350251.2:c.-807G>A	NP_001337180.1:n.-807G>A