Canonical Allele Identifier: CA401358715
Gene: CARD14 HGNC NCBI
SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 1400041
ClinVar RCV Id: RCV001896578 RCV002554336
dbSNP Id: rs370528435
gnomAD v2: 17-78184456-C-A
gnomAD v3: 17-80210657-C-A
gnomAD v4: 17-80210657-C-A
MyVariant Identifiers: chr17:g.78184456C>A (hg19) chr17:g.78184456_78184465delinsAGCGCCCGGT (hg19) chr17:g.80210657C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80210657C>A , CM000679.2:g.80210657C>A GRCh38
NC_000017.10:g.78184456C>A , CM000679.1:g.78184456C>A GRCh37
NC_000017.9:g.75799051C>A NCBI36
NG_008229.1:g.14744G>T
NG_032778.1:g.45666C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703570.1:n.2844+1399C>A (CARD14)
ENST00000326317.11:c.1304G>T (SGSH) MANE Select ENSP00000314606.6:p.Arg435Leu
ENST00000326317.10:c.1304G>T (SGSH) ENSP00000314606.6:p.Arg435Leu
ENST00000572257.5:c.551+1414G>T (SGSH)
ENST00000573150.5:c.*514G>T (SGSH) ENSP00000459280.1:n.*514G>T
ENST00000575282.5:n.4187G>T (SGSH)
ENST00000576856.1:c.558G>T (SGSH) ENSP00000460720.1:n.558G>T
NM_000199.3:c.1304G>T (SGSH) NP_000190.1:p.Arg435Leu
XM_005257583.3:c.949+1414G>T (SGSH) XP_005257640.1:n.949+1414G>T
NM_000199.4:c.1304G>T (SGSH) NP_000190.1:p.Arg435Leu
NM_001352921.1:c.*391G>T (SGSH) NP_001339850.1:n.*391G>T
NM_001352922.1:c.*354G>T (SGSH) NP_001339851.1:n.*354G>T
NR_148201.1:n.1285G>T (SGSH)
XM_005257583.4:c.949+1414G>T (SGSH) XP_005257640.1:n.949+1414G>T
XM_017024952.1:c.*1208G>T (SGSH) XP_016880441.1:n.*1208G>T
XR_001752585.1:n.1324G>T (SGSH)
XR_001752586.1:n.969+1414G>T (SGSH)
XR_001752587.1:n.969+1414G>T (SGSH)
XR_001752588.1:n.969+1414G>T (SGSH)
XR_001752589.1:n.969+1414G>T (SGSH)
XR_001752590.1:n.969+1414G>T (SGSH)
XR_001752591.1:n.969+1414G>T (SGSH)
XR_001752592.1:n.969+1414G>T (SGSH)
XR_002958057.1:n.1024+1212G>T (SGSH)
NM_000199.5:c.1304G>T (SGSH) MANE Select NP_000190.1:p.Arg435Leu
NM_001352921.2:c.*391G>T (SGSH) NP_001339850.1:n.*391G>T
NM_001352922.2:c.*354G>T (SGSH) NP_001339851.1:n.*354G>T
NR_148201.2:n.1218G>T (SGSH)
NM_001352921.3:c.*391G>T (SGSH) NP_001339850.1:n.*391G>T
Search 100 bp 5'
Search 100 bp 3'