Canonical Allele Identifier: CA8817561

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs745738178
• ExAC: 17:78184248 T / C
• gnomAD v2: 17-78184248-T-C
• gnomAD v4: 17-80210449-T-C
• MyVariant Identifiers: chr17:g.78184248T>C (hg19) ; chr17:g.80210449T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210449T>C , CM000679.2:g.80210449T>C	GRCh38
NC_000017.10:g.78184248T>C , CM000679.1:g.78184248T>C	GRCh37
NC_000017.9:g.75798843T>C	NCBI36
NG_008229.1:g.14952A>G
NG_032778.1:g.45458T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1191T>C (CARD14)
ENST00000326317.11:c.*3A>G (SGSH) MANE Select	ENSP00000314606.6:n.*3A>G
ENST00000326317.10:c.*3A>G (SGSH)	ENSP00000314606.6:n.*3A>G
ENST00000572257.5:c.551+1622A>G (SGSH)
ENST00000573150.5:c.*722A>G (SGSH)	ENSP00000459280.1:n.*722A>G
ENST00000575282.5:n.4395A>G (SGSH)
ENST00000576856.1:c.766A>G (SGSH)	ENSP00000460720.1:n.766A>G
NM_000199.3:c.*3A>G (SGSH)	NP_000190.1:n.*3A>G
XM_005257583.3:c.949+1622A>G (SGSH)	XP_005257640.1:n.949+1622A>G
NM_000199.4:c.*3A>G (SGSH)	NP_000190.1:n.*3A>G
NM_001352921.1:c.*599A>G (SGSH)	NP_001339850.1:n.*599A>G
NM_001352922.1:c.*562A>G (SGSH)	NP_001339851.1:n.*562A>G
NR_148201.1:n.1493A>G (SGSH)
XM_005257583.4:c.949+1622A>G (SGSH)	XP_005257640.1:n.949+1622A>G
XM_017024952.1:c.*1416A>G (SGSH)	XP_016880441.1:n.*1416A>G
XR_001752585.1:n.1532A>G (SGSH)
XR_001752586.1:n.969+1622A>G (SGSH)
XR_001752587.1:n.969+1622A>G (SGSH)
XR_001752588.1:n.969+1622A>G (SGSH)
XR_001752589.1:n.969+1622A>G (SGSH)
XR_001752590.1:n.969+1622A>G (SGSH)
XR_001752591.1:n.969+1622A>G (SGSH)
XR_001752592.1:n.969+1622A>G (SGSH)
XR_002958057.1:n.1024+1420A>G (SGSH)
NM_000199.5:c.*3A>G (SGSH) MANE Select	NP_000190.1:n.*3A>G
NM_001352921.2:c.*599A>G (SGSH)	NP_001339850.1:n.*599A>G
NM_001352922.2:c.*562A>G (SGSH)	NP_001339851.1:n.*562A>G
NR_148201.2:n.1426A>G (SGSH)
NM_001352921.3:c.*599A>G (SGSH)	NP_001339850.1:n.*599A>G