Canonical Allele Identifier: CA401361384

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1643799
• ClinVar RCV Id: RCV002138501
• dbSNP Id: rs1361941081
• gnomAD v4: 17-80213850-T-G
• MyVariant Identifiers: chr17:g.78187649T>G (hg19) ; chr17:g.80213850T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213850T>G , CM000679.2:g.80213850T>G	GRCh38
NC_000017.10:g.78187649T>G , CM000679.1:g.78187649T>G	GRCh37
NC_000017.9:g.75802244T>G	NCBI36
NG_008229.1:g.11551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2016T>G (CARD14)
ENST00000326317.11:c.699A>C (SGSH) MANE Select	ENSP00000314606.6:p.Arg233=
ENST00000326317.10:c.699A>C (SGSH)	ENSP00000314606.6:p.Arg233=
ENST00000570923.1:c.734A>C (SGSH)	ENSP00000458200.1:p.Glu245Ala
ENST00000572208.5:n.566A>C (SGSH)
ENST00000572257.5:c.301A>C (SGSH)
ENST00000573150.5:c.593A>C (SGSH)	ENSP00000459280.1:p.Glu198Ala
ENST00000574505.5:c.558A>C (SGSH)
ENST00000575282.5:n.994A>C (SGSH)
ENST00000576941.5:c.*115A>C (SGSH)	ENSP00000461160.1:n.*115A>C
NM_000199.3:c.699A>C (SGSH)	NP_000190.1:p.Arg233=
XM_005257582.2:c.699A>C (SGSH)	XP_005257639.1:p.Arg233=
XM_005257583.3:c.699A>C (SGSH)	XP_005257640.1:p.Arg233=
XM_011525126.1:c.699A>C (SGSH)	XP_011523428.1:p.Arg233=
XM_011525127.1:c.699A>C (SGSH)	XP_011523429.1:p.Arg233=
XR_934532.1:n.719A>C (SGSH)
NM_000199.4:c.699A>C (SGSH)	NP_000190.1:p.Arg233=
NM_001352921.1:c.699A>C (SGSH)	NP_001339850.1:p.Arg233=
NM_001352922.1:c.699A>C (SGSH)	NP_001339851.1:p.Arg233=
NR_148201.1:n.680A>C (SGSH)
XM_005257583.4:c.699A>C (SGSH)	XP_005257640.1:p.Arg233=
XM_017024952.1:c.699A>C (SGSH)	XP_016880441.1:p.Arg233=
XR_001752585.1:n.719A>C (SGSH)
XR_001752586.1:n.719A>C (SGSH)
XR_001752587.1:n.719A>C (SGSH)
XR_001752588.1:n.719A>C (SGSH)
XR_001752589.1:n.719A>C (SGSH)
XR_001752590.1:n.719A>C (SGSH)
XR_001752591.1:n.719A>C (SGSH)
XR_001752592.1:n.719A>C (SGSH)
XR_002958057.1:n.719A>C (SGSH)
XR_934532.2:n.719A>C (SGSH)
NM_000199.5:c.699A>C (SGSH) MANE Select	NP_000190.1:p.Arg233=
NM_001352921.2:c.699A>C (SGSH)	NP_001339850.1:p.Arg233=
NM_001352922.2:c.699A>C (SGSH)	NP_001339851.1:p.Arg233=
NR_148201.2:n.613A>C (SGSH)
NM_001352921.3:c.699A>C (SGSH)	NP_001339850.1:p.Arg233=