Canonical Allele Identifier: CA401359113

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs1450592395
• gnomAD v2: 17-78184646-T-C
• gnomAD v4: 17-80210847-T-C
• MyVariant Identifiers: chr17:g.78184646T>C (hg19) ; chr17:g.80210847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210847T>C , CM000679.2:g.80210847T>C	GRCh38
NC_000017.10:g.78184646T>C , CM000679.1:g.78184646T>C	GRCh37
NC_000017.9:g.75799241T>C	NCBI36
NG_008229.1:g.14554A>G
NG_032778.1:g.45856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1589T>C (CARD14)
ENST00000326317.11:c.1114A>G (SGSH) MANE Select	ENSP00000314606.6:p.Met372Val
ENST00000326317.10:c.1114A>G (SGSH)	ENSP00000314606.6:p.Met372Val
ENST00000572257.5:c.551+1224A>G (SGSH)
ENST00000573150.5:c.*324A>G (SGSH)	ENSP00000459280.1:n.*324A>G
ENST00000575282.5:n.3997A>G (SGSH)
ENST00000576856.1:c.368A>G (SGSH)	ENSP00000460720.1:n.368A>G
NM_000199.3:c.1114A>G (SGSH)	NP_000190.1:p.Met372Val
XM_005257583.3:c.949+1224A>G (SGSH)	XP_005257640.1:n.949+1224A>G
NM_000199.4:c.1114A>G (SGSH)	NP_000190.1:p.Met372Val
NM_001352921.1:c.*201A>G (SGSH)	NP_001339850.1:n.*201A>G
NM_001352922.1:c.*164A>G (SGSH)	NP_001339851.1:n.*164A>G
NR_148201.1:n.1095A>G (SGSH)
XM_005257583.4:c.949+1224A>G (SGSH)	XP_005257640.1:n.949+1224A>G
XM_017024952.1:c.*1018A>G (SGSH)	XP_016880441.1:n.*1018A>G
XR_001752585.1:n.1134A>G (SGSH)
XR_001752586.1:n.969+1224A>G (SGSH)
XR_001752587.1:n.969+1224A>G (SGSH)
XR_001752588.1:n.969+1224A>G (SGSH)
XR_001752589.1:n.969+1224A>G (SGSH)
XR_001752590.1:n.969+1224A>G (SGSH)
XR_001752591.1:n.969+1224A>G (SGSH)
XR_001752592.1:n.969+1224A>G (SGSH)
XR_002958057.1:n.1024+1022A>G (SGSH)
NM_000199.5:c.1114A>G (SGSH) MANE Select	NP_000190.1:p.Met372Val
NM_001352921.2:c.*201A>G (SGSH)	NP_001339850.1:n.*201A>G
NM_001352922.2:c.*164A>G (SGSH)	NP_001339851.1:n.*164A>G
NR_148201.2:n.1028A>G (SGSH)
NM_001352921.3:c.*201A>G (SGSH)	NP_001339850.1:n.*201A>G