Canonical Allele Identifier: CA117257

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 5107
• ClinVar RCV Id: RCV000005414 ; RCV000078356 ; RCV000348775 ; RCV000623663 ; RCV001030817
• dbSNP Id: rs104894635
• ExAC: 17:78187614 C / T
• gnomAD v2: 17-78187614-C-T
• gnomAD v3: 17-80213815-C-T
• gnomAD v4: 17-80213815-C-T
• MyVariant Identifiers: chr17:g.78187614C>T (hg19) ; chr17:g.80213815C>T (hg38)
• PubMed: PMID:9158154 ; PMID:9700599 ; PMID:10601282 ; PMID:12687673 ; PMID:17938166 ; PMID:18407553 ; PMID:21061399 ; PMID:21671382 ; PMID:22976768 ; PMID:23385295 ; PMID:23891399 ; PMID:24816101 ; PMID:25851924 ; PMID:26331342 ; PMID:26648750 ; PMID:27896117 ; PMID:28921412

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213815C>T , CM000679.2:g.80213815C>T	GRCh38
NC_000017.10:g.78187614C>T , CM000679.1:g.78187614C>T	GRCh37
NC_000017.9:g.75802209C>T	NCBI36
NG_008229.1:g.11586G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-2051C>T (CARD14)
ENST00000326317.11:c.734G>A (SGSH) MANE Select	ENSP00000314606.6:p.Arg245His
ENST00000326317.10:c.734G>A (SGSH)	ENSP00000314606.6:p.Arg245His
ENST00000570923.1:c.769G>A (SGSH)	ENSP00000458200.1:p.Ala257Thr
ENST00000572257.5:c.336G>A (SGSH)
ENST00000573150.5:c.628G>A (SGSH)	ENSP00000459280.1:p.Ala210Thr
ENST00000575282.5:n.1029G>A (SGSH)
ENST00000576941.5:c.*150G>A (SGSH)	ENSP00000461160.1:n.*150G>A
NM_000199.3:c.734G>A (SGSH)	NP_000190.1:p.Arg245His
XM_005257582.2:c.734G>A (SGSH)	XP_005257639.1:p.Arg245His
XM_005257583.3:c.734G>A (SGSH)	XP_005257640.1:p.Arg245His
XM_011525126.1:c.734G>A (SGSH)	XP_011523428.1:p.Arg245His
XM_011525127.1:c.734G>A (SGSH)	XP_011523429.1:p.Arg245His
XR_934532.1:n.754G>A (SGSH)
NM_000199.4:c.734G>A (SGSH)	NP_000190.1:p.Arg245His
NM_001352921.1:c.734G>A (SGSH)	NP_001339850.1:p.Arg245His
NM_001352922.1:c.734G>A (SGSH)	NP_001339851.1:p.Arg245His
NR_148201.1:n.715G>A (SGSH)
XM_005257583.4:c.734G>A (SGSH)	XP_005257640.1:p.Arg245His
XM_017024952.1:c.734G>A (SGSH)	XP_016880441.1:p.Arg245His
XR_001752585.1:n.754G>A (SGSH)
XR_001752586.1:n.754G>A (SGSH)
XR_001752587.1:n.754G>A (SGSH)
XR_001752588.1:n.754G>A (SGSH)
XR_001752589.1:n.754G>A (SGSH)
XR_001752590.1:n.754G>A (SGSH)
XR_001752591.1:n.754G>A (SGSH)
XR_001752592.1:n.754G>A (SGSH)
XR_002958057.1:n.754G>A (SGSH)
XR_934532.2:n.754G>A (SGSH)
NM_000199.5:c.734G>A (SGSH) MANE Select	NP_000190.1:p.Arg245His
NM_001352921.2:c.734G>A (SGSH)	NP_001339850.1:p.Arg245His
NM_001352922.2:c.734G>A (SGSH)	NP_001339851.1:p.Arg245His
NR_148201.2:n.648G>A (SGSH)
NM_001352921.3:c.734G>A (SGSH)	NP_001339850.1:p.Arg245His