Canonical Allele Identifier: CA401361699

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1083644
• ClinVar RCV Id: RCV001400377
• dbSNP Id: rs1168963563
• MyVariant Identifiers: chr17:g.78187974C>G (hg19) ; chr17:g.80214175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214175C>G , CM000679.2:g.80214175C>G	GRCh38
NC_000017.10:g.78187974C>G , CM000679.1:g.78187974C>G	GRCh37
NC_000017.9:g.75802569C>G	NCBI36
NG_008229.1:g.11226G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1691C>G (CARD14)
ENST00000326317.11:c.660G>C (SGSH) MANE Select	ENSP00000314606.6:p.Val220=
ENST00000326317.10:c.660G>C (SGSH)	ENSP00000314606.6:p.Val220=
ENST00000570923.1:c.695G>C (SGSH)	ENSP00000458200.1:p.Cys232Ser
ENST00000571051.5:n.529G>C (SGSH)
ENST00000572208.5:n.527G>C (SGSH)
ENST00000572257.5:c.262G>C (SGSH)
ENST00000573150.5:c.554G>C (SGSH)	ENSP00000459280.1:p.Cys185Ser
ENST00000574505.5:c.519G>C (SGSH)
ENST00000575282.5:n.669G>C (SGSH)
ENST00000576941.5:c.*76G>C (SGSH)	ENSP00000461160.1:n.*76G>C
NM_000199.3:c.660G>C (SGSH)	NP_000190.1:p.Val220=
XM_005257582.2:c.660G>C (SGSH)	XP_005257639.1:p.Val220=
XM_005257583.3:c.660G>C (SGSH)	XP_005257640.1:p.Val220=
XM_011525126.1:c.660G>C (SGSH)	XP_011523428.1:p.Val220=
XM_011525127.1:c.660G>C (SGSH)	XP_011523429.1:p.Val220=
XR_934532.1:n.680G>C (SGSH)
NM_000199.4:c.660G>C (SGSH)	NP_000190.1:p.Val220=
NM_001352921.1:c.660G>C (SGSH)	NP_001339850.1:p.Val220=
NM_001352922.1:c.660G>C (SGSH)	NP_001339851.1:p.Val220=
NR_148201.1:n.641G>C (SGSH)
XM_005257583.4:c.660G>C (SGSH)	XP_005257640.1:p.Val220=
XM_017024952.1:c.660G>C (SGSH)	XP_016880441.1:p.Val220=
XR_001752585.1:n.680G>C (SGSH)
XR_001752586.1:n.680G>C (SGSH)
XR_001752587.1:n.680G>C (SGSH)
XR_001752588.1:n.680G>C (SGSH)
XR_001752589.1:n.680G>C (SGSH)
XR_001752590.1:n.680G>C (SGSH)
XR_001752591.1:n.680G>C (SGSH)
XR_001752592.1:n.680G>C (SGSH)
XR_002958057.1:n.680G>C (SGSH)
XR_934532.2:n.680G>C (SGSH)
NM_000199.5:c.660G>C (SGSH) MANE Select	NP_000190.1:p.Val220=
NM_001352921.2:c.660G>C (SGSH)	NP_001339850.1:p.Val220=
NM_001352922.2:c.660G>C (SGSH)	NP_001339851.1:p.Val220=
NR_148201.2:n.574G>C (SGSH)
NM_001352921.3:c.660G>C (SGSH)	NP_001339850.1:p.Val220=