Canonical Allele Identifier: CA8817619

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1369601
• ClinVar RCV Id: RCV001870718
• dbSNP Id: rs373496399
• ExAC: 17:78184457 G / A
• gnomAD v2: 17-78184457-G-A
• gnomAD v3: 17-80210658-G-A
• gnomAD v4: 17-80210658-G-A
• MyVariant Identifiers: chr17:g.78184457G>A (hg19) ; chr17:g.80210658G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210658G>A , CM000679.2:g.80210658G>A	GRCh38
NC_000017.10:g.78184457G>A , CM000679.1:g.78184457G>A	GRCh37
NC_000017.9:g.75799052G>A	NCBI36
NG_008229.1:g.14743C>T
NG_032778.1:g.45667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1400G>A (CARD14)
ENST00000326317.11:c.1303C>T (SGSH) MANE Select	ENSP00000314606.6:p.Arg435Cys
ENST00000326317.10:c.1303C>T (SGSH)	ENSP00000314606.6:p.Arg435Cys
ENST00000572257.5:c.551+1413C>T (SGSH)
ENST00000573150.5:c.*513C>T (SGSH)	ENSP00000459280.1:n.*513C>T
ENST00000575282.5:n.4186C>T (SGSH)
ENST00000576856.1:c.557C>T (SGSH)	ENSP00000460720.1:n.557C>T
NM_000199.3:c.1303C>T (SGSH)	NP_000190.1:p.Arg435Cys
XM_005257583.3:c.949+1413C>T (SGSH)	XP_005257640.1:n.949+1413C>T
NM_000199.4:c.1303C>T (SGSH)	NP_000190.1:p.Arg435Cys
NM_001352921.1:c.*390C>T (SGSH)	NP_001339850.1:n.*390C>T
NM_001352922.1:c.*353C>T (SGSH)	NP_001339851.1:n.*353C>T
NR_148201.1:n.1284C>T (SGSH)
XM_005257583.4:c.949+1413C>T (SGSH)	XP_005257640.1:n.949+1413C>T
XM_017024952.1:c.*1207C>T (SGSH)	XP_016880441.1:n.*1207C>T
XR_001752585.1:n.1323C>T (SGSH)
XR_001752586.1:n.969+1413C>T (SGSH)
XR_001752587.1:n.969+1413C>T (SGSH)
XR_001752588.1:n.969+1413C>T (SGSH)
XR_001752589.1:n.969+1413C>T (SGSH)
XR_001752590.1:n.969+1413C>T (SGSH)
XR_001752591.1:n.969+1413C>T (SGSH)
XR_001752592.1:n.969+1413C>T (SGSH)
XR_002958057.1:n.1024+1211C>T (SGSH)
NM_000199.5:c.1303C>T (SGSH) MANE Select	NP_000190.1:p.Arg435Cys
NM_001352921.2:c.*390C>T (SGSH)	NP_001339850.1:n.*390C>T
NM_001352922.2:c.*353C>T (SGSH)	NP_001339851.1:n.*353C>T
NR_148201.2:n.1217C>T (SGSH)
NM_001352921.3:c.*390C>T (SGSH)	NP_001339850.1:n.*390C>T