Canonical Allele Identifier: CA986727360

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041572655
• gnomAD v3: 17-80210109-C-G
• gnomAD v4: 17-80210109-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210109C>G , CM000679.2:g.80210109C>G	GRCh38
NC_000017.10:g.78183908C>G , CM000679.1:g.78183908C>G	GRCh37
NC_000017.9:g.75798503C>G	NCBI36
NG_008229.1:g.15292G>C
NG_032778.1:g.45118C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+851C>G (CARD14)
ENST00000326317.11:c.*343G>C (SGSH) MANE Select	ENSP00000314606.6:n.*343G>C
ENST00000326317.10:c.*343G>C (SGSH)	ENSP00000314606.6:n.*343G>C
ENST00000572257.5:c.551+1962G>C (SGSH)
ENST00000573150.5:c.*1062G>C (SGSH)	ENSP00000459280.1:n.*1062G>C
ENST00000575282.5:n.4735G>C (SGSH)
NM_000199.3:c.*343G>C (SGSH)	NP_000190.1:n.*343G>C
XM_005257583.3:c.949+1962G>C (SGSH)	XP_005257640.1:n.949+1962G>C
NM_000199.4:c.*343G>C (SGSH)	NP_000190.1:n.*343G>C
NM_001352921.1:c.*939G>C (SGSH)	NP_001339850.1:n.*939G>C
NM_001352922.1:c.*902G>C (SGSH)	NP_001339851.1:n.*902G>C
NR_148201.1:n.1833G>C (SGSH)
XM_005257583.4:c.949+1962G>C (SGSH)	XP_005257640.1:n.949+1962G>C
XM_017024952.1:c.*1756G>C (SGSH)	XP_016880441.1:n.*1756G>C
XR_001752585.1:n.1872G>C (SGSH)
XR_001752586.1:n.969+1962G>C (SGSH)
XR_001752587.1:n.969+1962G>C (SGSH)
XR_001752588.1:n.969+1962G>C (SGSH)
XR_001752589.1:n.969+1962G>C (SGSH)
XR_001752590.1:n.969+1962G>C (SGSH)
XR_001752591.1:n.969+1962G>C (SGSH)
XR_001752592.1:n.969+1962G>C (SGSH)
XR_002958057.1:n.1024+1760G>C (SGSH)
NM_000199.5:c.*343G>C (SGSH) MANE Select	NP_000190.1:n.*343G>C
NM_001352921.2:c.*939G>C (SGSH)	NP_001339850.1:n.*939G>C
NM_001352922.2:c.*902G>C (SGSH)	NP_001339851.1:n.*902G>C
NR_148201.2:n.1766G>C (SGSH)
NM_001352921.3:c.*939G>C (SGSH)	NP_001339850.1:n.*939G>C