Canonical Allele Identifier: CA8817645

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 2910562
• ClinVar RCV Id: RCV003615397
• dbSNP Id: rs770446973
• ExAC: 17:78184542 G / A
• gnomAD v2: 17-78184542-G-A
• gnomAD v3: 17-80210743-G-A
• gnomAD v4: 17-80210743-G-A
• MyVariant Identifiers: chr17:g.78184542G>A (hg19) ; chr17:g.80210743G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210743G>A , CM000679.2:g.80210743G>A	GRCh38
NC_000017.10:g.78184542G>A , CM000679.1:g.78184542G>A	GRCh37
NC_000017.9:g.75799137G>A	NCBI36
NG_008229.1:g.14658C>T
NG_032778.1:g.45752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1485G>A (CARD14)
ENST00000326317.11:c.1218C>T (SGSH) MANE Select	ENSP00000314606.6:p.Pro406=
ENST00000326317.10:c.1218C>T (SGSH)	ENSP00000314606.6:p.Pro406=
ENST00000572257.5:c.551+1328C>T (SGSH)
ENST00000573150.5:c.*428C>T (SGSH)	ENSP00000459280.1:n.*428C>T
ENST00000575282.5:n.4101C>T (SGSH)
ENST00000576856.1:c.472C>T (SGSH)	ENSP00000460720.1:n.472C>T
NM_000199.3:c.1218C>T (SGSH)	NP_000190.1:p.Pro406=
XM_005257583.3:c.949+1328C>T (SGSH)	XP_005257640.1:n.949+1328C>T
NM_000199.4:c.1218C>T (SGSH)	NP_000190.1:p.Pro406=
NM_001352921.1:c.*305C>T (SGSH)	NP_001339850.1:n.*305C>T
NM_001352922.1:c.*268C>T (SGSH)	NP_001339851.1:n.*268C>T
NR_148201.1:n.1199C>T (SGSH)
XM_005257583.4:c.949+1328C>T (SGSH)	XP_005257640.1:n.949+1328C>T
XM_017024952.1:c.*1122C>T (SGSH)	XP_016880441.1:n.*1122C>T
XR_001752585.1:n.1238C>T (SGSH)
XR_001752586.1:n.969+1328C>T (SGSH)
XR_001752587.1:n.969+1328C>T (SGSH)
XR_001752588.1:n.969+1328C>T (SGSH)
XR_001752589.1:n.969+1328C>T (SGSH)
XR_001752590.1:n.969+1328C>T (SGSH)
XR_001752591.1:n.969+1328C>T (SGSH)
XR_001752592.1:n.969+1328C>T (SGSH)
XR_002958057.1:n.1024+1126C>T (SGSH)
NM_000199.5:c.1218C>T (SGSH) MANE Select	NP_000190.1:p.Pro406=
NM_001352921.2:c.*305C>T (SGSH)	NP_001339850.1:n.*305C>T
NM_001352922.2:c.*268C>T (SGSH)	NP_001339851.1:n.*268C>T
NR_148201.2:n.1132C>T (SGSH)
NM_001352921.3:c.*305C>T (SGSH)	NP_001339850.1:n.*305C>T