Canonical Allele Identifier: CA10650382

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 325823
• ClinVar RCV Id: RCV000321384 ; RCV001555912
• dbSNP Id: rs139066649
• gnomAD v2: 17-78184050-T-A
• gnomAD v3: 17-80210251-T-A
• gnomAD v4: 17-80210251-T-A
• MyVariant Identifiers: chr17:g.78184050T>A (hg19) ; chr17:g.80210251T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210251T>A , CM000679.2:g.80210251T>A	GRCh38
NC_000017.10:g.78184050T>A , CM000679.1:g.78184050T>A	GRCh37
NC_000017.9:g.75798645T>A	NCBI36
NG_008229.1:g.15150A>T
NG_032778.1:g.45260T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+993T>A (CARD14)
ENST00000326317.11:c.*201A>T (SGSH) MANE Select	ENSP00000314606.6:n.*201A>T
ENST00000326317.10:c.*201A>T (SGSH)	ENSP00000314606.6:n.*201A>T
ENST00000572257.5:c.551+1820A>T (SGSH)
ENST00000573150.5:c.*920A>T (SGSH)	ENSP00000459280.1:n.*920A>T
ENST00000575282.5:n.4593A>T (SGSH)
NM_000199.3:c.*201A>T (SGSH)	NP_000190.1:n.*201A>T
XM_005257583.3:c.949+1820A>T (SGSH)	XP_005257640.1:n.949+1820A>T
NM_000199.4:c.*201A>T (SGSH)	NP_000190.1:n.*201A>T
NM_001352921.1:c.*797A>T (SGSH)	NP_001339850.1:n.*797A>T
NM_001352922.1:c.*760A>T (SGSH)	NP_001339851.1:n.*760A>T
NR_148201.1:n.1691A>T (SGSH)
XM_005257583.4:c.949+1820A>T (SGSH)	XP_005257640.1:n.949+1820A>T
XM_017024952.1:c.*1614A>T (SGSH)	XP_016880441.1:n.*1614A>T
XR_001752585.1:n.1730A>T (SGSH)
XR_001752586.1:n.969+1820A>T (SGSH)
XR_001752587.1:n.969+1820A>T (SGSH)
XR_001752588.1:n.969+1820A>T (SGSH)
XR_001752589.1:n.969+1820A>T (SGSH)
XR_001752590.1:n.969+1820A>T (SGSH)
XR_001752591.1:n.969+1820A>T (SGSH)
XR_001752592.1:n.969+1820A>T (SGSH)
XR_002958057.1:n.1024+1618A>T (SGSH)
NM_000199.5:c.*201A>T (SGSH) MANE Select	NP_000190.1:n.*201A>T
NM_001352921.2:c.*797A>T (SGSH)	NP_001339850.1:n.*797A>T
NM_001352922.2:c.*760A>T (SGSH)	NP_001339851.1:n.*760A>T
NR_148201.2:n.1624A>T (SGSH)
NM_001352921.3:c.*797A>T (SGSH)	NP_001339850.1:n.*797A>T