Canonical Allele Identifier: CA8817848

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs760542684
• ExAC: 17:78187680 G / A
• gnomAD v2: 17-78187680-G-A
• gnomAD v4: 17-80213881-G-A
• MyVariant Identifiers: chr17:g.78187680G>A (hg19) ; chr17:g.80213881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213881G>A , CM000679.2:g.80213881G>A	GRCh38
NC_000017.10:g.78187680G>A , CM000679.1:g.78187680G>A	GRCh37
NC_000017.9:g.75802275G>A	NCBI36
NG_008229.1:g.11520C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1985G>A (CARD14)
ENST00000326317.11:c.668C>T (SGSH) MANE Select	ENSP00000314606.6:p.Pro223Leu
ENST00000326317.10:c.668C>T (SGSH)	ENSP00000314606.6:p.Pro223Leu
ENST00000570923.1:c.703C>T (SGSH)	ENSP00000458200.1:p.Leu235Phe
ENST00000572208.5:n.535C>T (SGSH)
ENST00000572257.5:c.270C>T (SGSH)
ENST00000573150.5:c.562C>T (SGSH)	ENSP00000459280.1:p.Leu188Phe
ENST00000574505.5:c.527C>T (SGSH)
ENST00000575282.5:n.963C>T (SGSH)
ENST00000576941.5:c.*84C>T (SGSH)	ENSP00000461160.1:n.*84C>T
NM_000199.3:c.668C>T (SGSH)	NP_000190.1:p.Pro223Leu
XM_005257582.2:c.668C>T (SGSH)	XP_005257639.1:p.Pro223Leu
XM_005257583.3:c.668C>T (SGSH)	XP_005257640.1:p.Pro223Leu
XM_011525126.1:c.668C>T (SGSH)	XP_011523428.1:p.Pro223Leu
XM_011525127.1:c.668C>T (SGSH)	XP_011523429.1:p.Pro223Leu
XR_934532.1:n.688C>T (SGSH)
NM_000199.4:c.668C>T (SGSH)	NP_000190.1:p.Pro223Leu
NM_001352921.1:c.668C>T (SGSH)	NP_001339850.1:p.Pro223Leu
NM_001352922.1:c.668C>T (SGSH)	NP_001339851.1:p.Pro223Leu
NR_148201.1:n.649C>T (SGSH)
XM_005257583.4:c.668C>T (SGSH)	XP_005257640.1:p.Pro223Leu
XM_017024952.1:c.668C>T (SGSH)	XP_016880441.1:p.Pro223Leu
XR_001752585.1:n.688C>T (SGSH)
XR_001752586.1:n.688C>T (SGSH)
XR_001752587.1:n.688C>T (SGSH)
XR_001752588.1:n.688C>T (SGSH)
XR_001752589.1:n.688C>T (SGSH)
XR_001752590.1:n.688C>T (SGSH)
XR_001752591.1:n.688C>T (SGSH)
XR_001752592.1:n.688C>T (SGSH)
XR_002958057.1:n.688C>T (SGSH)
XR_934532.2:n.688C>T (SGSH)
NM_000199.5:c.668C>T (SGSH) MANE Select	NP_000190.1:p.Pro223Leu
NM_001352921.2:c.668C>T (SGSH)	NP_001339850.1:p.Pro223Leu
NM_001352922.2:c.668C>T (SGSH)	NP_001339851.1:p.Pro223Leu
NR_148201.2:n.582C>T (SGSH)
NM_001352921.3:c.668C>T (SGSH)	NP_001339850.1:p.Pro223Leu