Canonical Allele Identifier: CA8817648

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs771251355
• ExAC: 17:78184559 C / T
• gnomAD v2: 17-78184559-C-T
• gnomAD v4: 17-80210760-C-T
• COSMIC: COSM5387577
• MyVariant Identifiers: chr17:g.78184559C>T (hg19) ; chr17:g.80210760C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210760C>T , CM000679.2:g.80210760C>T	GRCh38
NC_000017.10:g.78184559C>T , CM000679.1:g.78184559C>T	GRCh37
NC_000017.9:g.75799154C>T	NCBI36
NG_008229.1:g.14641G>A
NG_032778.1:g.45769C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2844+1502C>T (CARD14)
ENST00000326317.11:c.1201G>A (SGSH) MANE Select	ENSP00000314606.6:p.Asp401Asn
ENST00000326317.10:c.1201G>A (SGSH)	ENSP00000314606.6:p.Asp401Asn
ENST00000572257.5:c.551+1311G>A (SGSH)
ENST00000573150.5:c.*411G>A (SGSH)	ENSP00000459280.1:n.*411G>A
ENST00000575282.5:n.4084G>A (SGSH)
ENST00000576856.1:c.455G>A (SGSH)	ENSP00000460720.1:n.455G>A
NM_000199.3:c.1201G>A (SGSH)	NP_000190.1:p.Asp401Asn
XM_005257583.3:c.949+1311G>A (SGSH)	XP_005257640.1:n.949+1311G>A
NM_000199.4:c.1201G>A (SGSH)	NP_000190.1:p.Asp401Asn
NM_001352921.1:c.*288G>A (SGSH)	NP_001339850.1:n.*288G>A
NM_001352922.1:c.*251G>A (SGSH)	NP_001339851.1:n.*251G>A
NR_148201.1:n.1182G>A (SGSH)
XM_005257583.4:c.949+1311G>A (SGSH)	XP_005257640.1:n.949+1311G>A
XM_017024952.1:c.*1105G>A (SGSH)	XP_016880441.1:n.*1105G>A
XR_001752585.1:n.1221G>A (SGSH)
XR_001752586.1:n.969+1311G>A (SGSH)
XR_001752587.1:n.969+1311G>A (SGSH)
XR_001752588.1:n.969+1311G>A (SGSH)
XR_001752589.1:n.969+1311G>A (SGSH)
XR_001752590.1:n.969+1311G>A (SGSH)
XR_001752591.1:n.969+1311G>A (SGSH)
XR_001752592.1:n.969+1311G>A (SGSH)
XR_002958057.1:n.1024+1109G>A (SGSH)
NM_000199.5:c.1201G>A (SGSH) MANE Select	NP_000190.1:p.Asp401Asn
NM_001352921.2:c.*288G>A (SGSH)	NP_001339850.1:n.*288G>A
NM_001352922.2:c.*251G>A (SGSH)	NP_001339851.1:n.*251G>A
NR_148201.2:n.1115G>A (SGSH)
NM_001352921.3:c.*288G>A (SGSH)	NP_001339850.1:n.*288G>A