Canonical Allele Identifier: CA129225

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 30459
• ClinVar RCV Id: RCV000023412 ; RCV000078357 ; RCV000326423 ; RCV001003995 ; RCV001030818 ; RCV001837443
• dbSNP Id: rs138504221
• ExAC: 17:78185927 A / G
• gnomAD v2: 17-78185927-A-G
• gnomAD v3: 17-80212128-A-G
• gnomAD v4: 17-80212128-A-G
• MyVariant Identifiers: chr17:g.78185927A>G (hg19) ; chr17:g.80212128A>G (hg38)
• PubMed: PMID:9401012 ; PMID:15146460 ; PMID:18407553 ; PMID:21061399 ; PMID:21204211 ; PMID:21671382 ; PMID:22976768 ; PMID:24271936 ; PMID:24524415 ; PMID:24816101 ; PMID:25807448 ; PMID:26787381

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212128A>G , CM000679.2:g.80212128A>G	GRCh38
NC_000017.10:g.78185927A>G , CM000679.1:g.78185927A>G	GRCh37
NC_000017.9:g.75800522A>G	NCBI36
NG_008229.1:g.13273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+2870A>G (CARD14)
ENST00000326317.11:c.892T>C (SGSH) MANE Select	ENSP00000314606.6:p.Ser298Pro
ENST00000326317.10:c.892T>C (SGSH)	ENSP00000314606.6:p.Ser298Pro
ENST00000570923.1:c.*102T>C (SGSH)	ENSP00000458200.1:n.*102T>C
ENST00000572257.5:c.494T>C (SGSH)
ENST00000573150.5:c.*102T>C (SGSH)	ENSP00000459280.1:n.*102T>C
ENST00000575282.5:n.2716T>C (SGSH)
ENST00000576856.1:c.91T>C (SGSH)	ENSP00000460720.1:p.Ser31Pro
NM_000199.3:c.892T>C (SGSH)	NP_000190.1:p.Ser298Pro
XM_005257582.2:c.892T>C (SGSH)	XP_005257639.1:p.Ser298Pro
XM_005257583.3:c.892T>C (SGSH)	XP_005257640.1:p.Ser298Pro
XM_011525126.1:c.892T>C (SGSH)	XP_011523428.1:p.Ser298Pro
XM_011525127.1:c.892T>C (SGSH)	XP_011523429.1:p.Ser298Pro
XR_934532.1:n.912T>C (SGSH)
NM_000199.4:c.892T>C (SGSH)	NP_000190.1:p.Ser298Pro
NM_001352921.1:c.892T>C (SGSH)	NP_001339850.1:p.Ser298Pro
NM_001352922.1:c.892T>C (SGSH)	NP_001339851.1:p.Ser298Pro
NR_148201.1:n.873T>C (SGSH)
XM_005257583.4:c.892T>C (SGSH)	XP_005257640.1:p.Ser298Pro
XM_017024952.1:c.892T>C (SGSH)	XP_016880441.1:p.Ser298Pro
XR_001752585.1:n.912T>C (SGSH)
XR_001752586.1:n.912T>C (SGSH)
XR_001752587.1:n.912T>C (SGSH)
XR_001752588.1:n.912T>C (SGSH)
XR_001752589.1:n.912T>C (SGSH)
XR_001752590.1:n.912T>C (SGSH)
XR_001752591.1:n.912T>C (SGSH)
XR_001752592.1:n.912T>C (SGSH)
XR_002958057.1:n.912T>C (SGSH)
XR_934532.2:n.912T>C (SGSH)
NM_000199.5:c.892T>C (SGSH) MANE Select	NP_000190.1:p.Ser298Pro
NM_001352921.2:c.892T>C (SGSH)	NP_001339850.1:p.Ser298Pro
NM_001352922.2:c.892T>C (SGSH)	NP_001339851.1:p.Ser298Pro
NR_148201.2:n.806T>C (SGSH)
NM_001352921.3:c.892T>C (SGSH)	NP_001339850.1:p.Ser298Pro