Canonical Allele Identifier: CA401361591

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2144736396
• gnomAD v4: 17-80213882-G-T
• MyVariant Identifiers: chr17:g.78187681G>T (hg19) ; chr17:g.80213882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213882G>T , CM000679.2:g.80213882G>T	GRCh38
NC_000017.10:g.78187681G>T , CM000679.1:g.78187681G>T	GRCh37
NC_000017.9:g.75802276G>T	NCBI36
NG_008229.1:g.11519C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1984G>T (CARD14)
ENST00000326317.11:c.667C>A (SGSH) MANE Select	ENSP00000314606.6:p.Pro223Thr
ENST00000326317.10:c.667C>A (SGSH)	ENSP00000314606.6:p.Pro223Thr
ENST00000570923.1:c.702C>A (SGSH)	ENSP00000458200.1:p.Cys234Ter
ENST00000572208.5:n.534C>A (SGSH)
ENST00000572257.5:c.269C>A (SGSH)
ENST00000573150.5:c.561C>A (SGSH)	ENSP00000459280.1:p.Cys187Ter
ENST00000574505.5:c.526C>A (SGSH)
ENST00000575282.5:n.962C>A (SGSH)
ENST00000576941.5:c.*83C>A (SGSH)	ENSP00000461160.1:n.*83C>A
NM_000199.3:c.667C>A (SGSH)	NP_000190.1:p.Pro223Thr
XM_005257582.2:c.667C>A (SGSH)	XP_005257639.1:p.Pro223Thr
XM_005257583.3:c.667C>A (SGSH)	XP_005257640.1:p.Pro223Thr
XM_011525126.1:c.667C>A (SGSH)	XP_011523428.1:p.Pro223Thr
XM_011525127.1:c.667C>A (SGSH)	XP_011523429.1:p.Pro223Thr
XR_934532.1:n.687C>A (SGSH)
NM_000199.4:c.667C>A (SGSH)	NP_000190.1:p.Pro223Thr
NM_001352921.1:c.667C>A (SGSH)	NP_001339850.1:p.Pro223Thr
NM_001352922.1:c.667C>A (SGSH)	NP_001339851.1:p.Pro223Thr
NR_148201.1:n.648C>A (SGSH)
XM_005257583.4:c.667C>A (SGSH)	XP_005257640.1:p.Pro223Thr
XM_017024952.1:c.667C>A (SGSH)	XP_016880441.1:p.Pro223Thr
XR_001752585.1:n.687C>A (SGSH)
XR_001752586.1:n.687C>A (SGSH)
XR_001752587.1:n.687C>A (SGSH)
XR_001752588.1:n.687C>A (SGSH)
XR_001752589.1:n.687C>A (SGSH)
XR_001752590.1:n.687C>A (SGSH)
XR_001752591.1:n.687C>A (SGSH)
XR_001752592.1:n.687C>A (SGSH)
XR_002958057.1:n.687C>A (SGSH)
XR_934532.2:n.687C>A (SGSH)
NM_000199.5:c.667C>A (SGSH) MANE Select	NP_000190.1:p.Pro223Thr
NM_001352921.2:c.667C>A (SGSH)	NP_001339850.1:p.Pro223Thr
NM_001352922.2:c.667C>A (SGSH)	NP_001339851.1:p.Pro223Thr
NR_148201.2:n.581C>A (SGSH)
NM_001352921.3:c.667C>A (SGSH)	NP_001339850.1:p.Pro223Thr