Canonical Allele Identifier: CA401359955

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 522769
• ClinVar RCV Id: RCV000625930
• dbSNP Id: rs746776254
• gnomAD v2: 17-78186007-G-A
• gnomAD v3: 17-80212208-G-A
• gnomAD v4: 17-80212208-G-A
• MyVariant Identifiers: chr17:g.78186007G>A (hg19) ; chr17:g.80212208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80212208G>A , CM000679.2:g.80212208G>A	GRCh38
NC_000017.10:g.78186007G>A , CM000679.1:g.78186007G>A	GRCh37
NC_000017.9:g.75800602G>A	NCBI36
NG_008229.1:g.13193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+2950G>A (CARD14)
ENST00000326317.11:c.812C>T (SGSH) MANE Select	ENSP00000314606.6:p.Thr271Met
ENST00000326317.10:c.812C>T (SGSH)	ENSP00000314606.6:p.Thr271Met
ENST00000570923.1:c.*22C>T (SGSH)	ENSP00000458200.1:n.*22C>T
ENST00000572257.5:c.414C>T (SGSH)
ENST00000573150.5:c.*22C>T (SGSH)	ENSP00000459280.1:n.*22C>T
ENST00000575282.5:n.2636C>T (SGSH)
ENST00000576856.1:c.11C>T (SGSH)	ENSP00000460720.1:p.Thr4Met
ENST00000576941.5:c.*228C>T (SGSH)	ENSP00000461160.1:n.*228C>T
NM_000199.3:c.812C>T (SGSH)	NP_000190.1:p.Thr271Met
XM_005257582.2:c.812C>T (SGSH)	XP_005257639.1:p.Thr271Met
XM_005257583.3:c.812C>T (SGSH)	XP_005257640.1:p.Thr271Met
XM_011525126.1:c.812C>T (SGSH)	XP_011523428.1:p.Thr271Met
XM_011525127.1:c.812C>T (SGSH)	XP_011523429.1:p.Thr271Met
XR_934532.1:n.832C>T (SGSH)
NM_000199.4:c.812C>T (SGSH)	NP_000190.1:p.Thr271Met
NM_001352921.1:c.812C>T (SGSH)	NP_001339850.1:p.Thr271Met
NM_001352922.1:c.812C>T (SGSH)	NP_001339851.1:p.Thr271Met
NR_148201.1:n.793C>T (SGSH)
XM_005257583.4:c.812C>T (SGSH)	XP_005257640.1:p.Thr271Met
XM_017024952.1:c.812C>T (SGSH)	XP_016880441.1:p.Thr271Met
XR_001752585.1:n.832C>T (SGSH)
XR_001752586.1:n.832C>T (SGSH)
XR_001752587.1:n.832C>T (SGSH)
XR_001752588.1:n.832C>T (SGSH)
XR_001752589.1:n.832C>T (SGSH)
XR_001752590.1:n.832C>T (SGSH)
XR_001752591.1:n.832C>T (SGSH)
XR_001752592.1:n.832C>T (SGSH)
XR_002958057.1:n.832C>T (SGSH)
XR_934532.2:n.832C>T (SGSH)
NM_000199.5:c.812C>T (SGSH) MANE Select	NP_000190.1:p.Thr271Met
NM_001352921.2:c.812C>T (SGSH)	NP_001339850.1:p.Thr271Met
NM_001352922.2:c.812C>T (SGSH)	NP_001339851.1:p.Thr271Met
NR_148201.2:n.726C>T (SGSH)
NM_001352921.3:c.812C>T (SGSH)	NP_001339850.1:p.Thr271Met