Canonical Allele Identifier: CA401361747

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1615350
• ClinVar RCV Id: RCV002081401
• dbSNP Id: rs2144742092
• MyVariant Identifiers: chr17:g.78187986G>A (hg19) ; chr17:g.80214187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214187G>A , CM000679.2:g.80214187G>A	GRCh38
NC_000017.10:g.78187986G>A , CM000679.1:g.78187986G>A	GRCh37
NC_000017.9:g.75802581G>A	NCBI36
NG_008229.1:g.11214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1679G>A (CARD14)
ENST00000326317.11:c.648C>T (SGSH) MANE Select	ENSP00000314606.6:p.Asp216=
ENST00000326317.10:c.648C>T (SGSH)	ENSP00000314606.6:p.Asp216=
ENST00000570923.1:c.683C>T (SGSH)	ENSP00000458200.1:p.Thr228Ile
ENST00000571051.5:n.517C>T (SGSH)
ENST00000572208.5:n.515C>T (SGSH)
ENST00000572257.5:c.250C>T (SGSH)
ENST00000573150.5:c.542C>T (SGSH)	ENSP00000459280.1:p.Thr181Ile
ENST00000574505.5:c.507C>T (SGSH)
ENST00000575282.5:n.657C>T (SGSH)
ENST00000576941.5:c.*64C>T (SGSH)	ENSP00000461160.1:n.*64C>T
NM_000199.3:c.648C>T (SGSH)	NP_000190.1:p.Asp216=
XM_005257582.2:c.648C>T (SGSH)	XP_005257639.1:p.Asp216=
XM_005257583.3:c.648C>T (SGSH)	XP_005257640.1:p.Asp216=
XM_011525126.1:c.648C>T (SGSH)	XP_011523428.1:p.Asp216=
XM_011525127.1:c.648C>T (SGSH)	XP_011523429.1:p.Asp216=
XR_934532.1:n.668C>T (SGSH)
NM_000199.4:c.648C>T (SGSH)	NP_000190.1:p.Asp216=
NM_001352921.1:c.648C>T (SGSH)	NP_001339850.1:p.Asp216=
NM_001352922.1:c.648C>T (SGSH)	NP_001339851.1:p.Asp216=
NR_148201.1:n.629C>T (SGSH)
XM_005257583.4:c.648C>T (SGSH)	XP_005257640.1:p.Asp216=
XM_017024952.1:c.648C>T (SGSH)	XP_016880441.1:p.Asp216=
XR_001752585.1:n.668C>T (SGSH)
XR_001752586.1:n.668C>T (SGSH)
XR_001752587.1:n.668C>T (SGSH)
XR_001752588.1:n.668C>T (SGSH)
XR_001752589.1:n.668C>T (SGSH)
XR_001752590.1:n.668C>T (SGSH)
XR_001752591.1:n.668C>T (SGSH)
XR_001752592.1:n.668C>T (SGSH)
XR_002958057.1:n.668C>T (SGSH)
XR_934532.2:n.668C>T (SGSH)
NM_000199.5:c.648C>T (SGSH) MANE Select	NP_000190.1:p.Asp216=
NM_001352921.2:c.648C>T (SGSH)	NP_001339850.1:p.Asp216=
NM_001352922.2:c.648C>T (SGSH)	NP_001339851.1:p.Asp216=
NR_148201.2:n.562C>T (SGSH)
NM_001352921.3:c.648C>T (SGSH)	NP_001339850.1:p.Asp216=