Canonical Allele Identifier: CA656890514

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80210429-T-C
• COSMIC: COSN8603928

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210429T>C , CM000679.2:g.80210429T>C	GRCh38
NC_000017.10:g.78184228T>C , CM000679.1:g.78184228T>C	GRCh37
NC_000017.9:g.75798823T>C	NCBI36
NG_008229.1:g.14972A>G
NG_032778.1:g.45438T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1171T>C (CARD14)
ENST00000326317.11:c.*23A>G (SGSH) MANE Select	ENSP00000314606.6:n.*23A>G
ENST00000326317.10:c.*23A>G (SGSH)	ENSP00000314606.6:n.*23A>G
ENST00000572257.5:c.551+1642A>G (SGSH)
ENST00000573150.5:c.*742A>G (SGSH)	ENSP00000459280.1:n.*742A>G
ENST00000575282.5:n.4415A>G (SGSH)
ENST00000576856.1:c.786A>G (SGSH)	ENSP00000460720.1:n.786A>G
NM_000199.3:c.*23A>G (SGSH)	NP_000190.1:n.*23A>G
XM_005257583.3:c.949+1642A>G (SGSH)	XP_005257640.1:n.949+1642A>G
NM_000199.4:c.*23A>G (SGSH)	NP_000190.1:n.*23A>G
NM_001352921.1:c.*619A>G (SGSH)	NP_001339850.1:n.*619A>G
NM_001352922.1:c.*582A>G (SGSH)	NP_001339851.1:n.*582A>G
NR_148201.1:n.1513A>G (SGSH)
XM_005257583.4:c.949+1642A>G (SGSH)	XP_005257640.1:n.949+1642A>G
XM_017024952.1:c.*1436A>G (SGSH)	XP_016880441.1:n.*1436A>G
XR_001752585.1:n.1552A>G (SGSH)
XR_001752586.1:n.969+1642A>G (SGSH)
XR_001752587.1:n.969+1642A>G (SGSH)
XR_001752588.1:n.969+1642A>G (SGSH)
XR_001752589.1:n.969+1642A>G (SGSH)
XR_001752590.1:n.969+1642A>G (SGSH)
XR_001752591.1:n.969+1642A>G (SGSH)
XR_001752592.1:n.969+1642A>G (SGSH)
XR_002958057.1:n.1024+1440A>G (SGSH)
NM_000199.5:c.*23A>G (SGSH) MANE Select	NP_000190.1:n.*23A>G
NM_001352921.2:c.*619A>G (SGSH)	NP_001339850.1:n.*619A>G
NM_001352922.2:c.*582A>G (SGSH)	NP_001339851.1:n.*582A>G
NR_148201.2:n.1446A>G (SGSH)
NM_001352921.3:c.*619A>G (SGSH)	NP_001339850.1:n.*619A>G