Canonical Allele Identifier: CA8817644

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1430689
• ClinVar RCV Id: RCV001952503
• dbSNP Id: rs748612821
• ExAC: 17:78184531 T / C
• gnomAD v2: 17-78184531-T-C
• gnomAD v3: 17-80210732-T-C
• gnomAD v4: 17-80210732-T-C
• MyVariant Identifiers: chr17:g.78184531T>C (hg19) ; chr17:g.80210732T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210732T>C , CM000679.2:g.80210732T>C	GRCh38
NC_000017.10:g.78184531T>C , CM000679.1:g.78184531T>C	GRCh37
NC_000017.9:g.75799126T>C	NCBI36
NG_008229.1:g.14669A>G
NG_032778.1:g.45741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1474T>C (CARD14)
ENST00000326317.11:c.1229A>G (SGSH) MANE Select	ENSP00000314606.6:p.Asp410Gly
ENST00000326317.10:c.1229A>G (SGSH)	ENSP00000314606.6:p.Asp410Gly
ENST00000572257.5:c.551+1339A>G (SGSH)
ENST00000573150.5:c.*439A>G (SGSH)	ENSP00000459280.1:n.*439A>G
ENST00000575282.5:n.4112A>G (SGSH)
ENST00000576856.1:c.483A>G (SGSH)	ENSP00000460720.1:n.483A>G
NM_000199.3:c.1229A>G (SGSH)	NP_000190.1:p.Asp410Gly
XM_005257583.3:c.949+1339A>G (SGSH)	XP_005257640.1:n.949+1339A>G
NM_000199.4:c.1229A>G (SGSH)	NP_000190.1:p.Asp410Gly
NM_001352921.1:c.*316A>G (SGSH)	NP_001339850.1:n.*316A>G
NM_001352922.1:c.*279A>G (SGSH)	NP_001339851.1:n.*279A>G
NR_148201.1:n.1210A>G (SGSH)
XM_005257583.4:c.949+1339A>G (SGSH)	XP_005257640.1:n.949+1339A>G
XM_017024952.1:c.*1133A>G (SGSH)	XP_016880441.1:n.*1133A>G
XR_001752585.1:n.1249A>G (SGSH)
XR_001752586.1:n.969+1339A>G (SGSH)
XR_001752587.1:n.969+1339A>G (SGSH)
XR_001752588.1:n.969+1339A>G (SGSH)
XR_001752589.1:n.969+1339A>G (SGSH)
XR_001752590.1:n.969+1339A>G (SGSH)
XR_001752591.1:n.969+1339A>G (SGSH)
XR_001752592.1:n.969+1339A>G (SGSH)
XR_002958057.1:n.1024+1137A>G (SGSH)
NM_000199.5:c.1229A>G (SGSH) MANE Select	NP_000190.1:p.Asp410Gly
NM_001352921.2:c.*316A>G (SGSH)	NP_001339850.1:n.*316A>G
NM_001352922.2:c.*279A>G (SGSH)	NP_001339851.1:n.*279A>G
NR_148201.2:n.1143A>G (SGSH)
NM_001352921.3:c.*316A>G (SGSH)	NP_001339850.1:n.*316A>G