Canonical Allele Identifier: CA8817837

Gene: CARD14 SGSH

Linked Data

• ClinVar Variation Id: 1493600
• ClinVar RCV Id: RCV002012683
• dbSNP Id: rs781715169
• ExAC: 17:78187658 C / T
• gnomAD v2: 17-78187658-C-T
• gnomAD v3: 17-80213859-C-T
• gnomAD v4: 17-80213859-C-T
• MyVariant Identifiers: chr17:g.78187658C>T (hg19) ; chr17:g.80213859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213859C>T , CM000679.2:g.80213859C>T	GRCh38
NC_000017.10:g.78187658C>T , CM000679.1:g.78187658C>T	GRCh37
NC_000017.9:g.75802253C>T	NCBI36
NG_008229.1:g.11542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-2007C>T (CARD14)
ENST00000326317.11:c.690G>A (SGSH) MANE Select	ENSP00000314606.6:p.Pro230=
ENST00000326317.10:c.690G>A (SGSH)	ENSP00000314606.6:p.Pro230=
ENST00000570923.1:c.725G>A (SGSH)	ENSP00000458200.1:p.Arg242Gln
ENST00000572208.5:n.557G>A (SGSH)
ENST00000572257.5:c.292G>A (SGSH)
ENST00000573150.5:c.584G>A (SGSH)	ENSP00000459280.1:p.Arg195Gln
ENST00000574505.5:c.549G>A (SGSH)
ENST00000575282.5:n.985G>A (SGSH)
ENST00000576941.5:c.*106G>A (SGSH)	ENSP00000461160.1:n.*106G>A
NM_000199.3:c.690G>A (SGSH)	NP_000190.1:p.Pro230=
XM_005257582.2:c.690G>A (SGSH)	XP_005257639.1:p.Pro230=
XM_005257583.3:c.690G>A (SGSH)	XP_005257640.1:p.Pro230=
XM_011525126.1:c.690G>A (SGSH)	XP_011523428.1:p.Pro230=
XM_011525127.1:c.690G>A (SGSH)	XP_011523429.1:p.Pro230=
XR_934532.1:n.710G>A (SGSH)
NM_000199.4:c.690G>A (SGSH)	NP_000190.1:p.Pro230=
NM_001352921.1:c.690G>A (SGSH)	NP_001339850.1:p.Pro230=
NM_001352922.1:c.690G>A (SGSH)	NP_001339851.1:p.Pro230=
NR_148201.1:n.671G>A (SGSH)
XM_005257583.4:c.690G>A (SGSH)	XP_005257640.1:p.Pro230=
XM_017024952.1:c.690G>A (SGSH)	XP_016880441.1:p.Pro230=
XR_001752585.1:n.710G>A (SGSH)
XR_001752586.1:n.710G>A (SGSH)
XR_001752587.1:n.710G>A (SGSH)
XR_001752588.1:n.710G>A (SGSH)
XR_001752589.1:n.710G>A (SGSH)
XR_001752590.1:n.710G>A (SGSH)
XR_001752591.1:n.710G>A (SGSH)
XR_001752592.1:n.710G>A (SGSH)
XR_002958057.1:n.710G>A (SGSH)
XR_934532.2:n.710G>A (SGSH)
NM_000199.5:c.690G>A (SGSH) MANE Select	NP_000190.1:p.Pro230=
NM_001352921.2:c.690G>A (SGSH)	NP_001339850.1:p.Pro230=
NM_001352922.2:c.690G>A (SGSH)	NP_001339851.1:p.Pro230=
NR_148201.2:n.604G>A (SGSH)
NM_001352921.3:c.690G>A (SGSH)	NP_001339850.1:p.Pro230=