Canonical Allele Identifier: CA628019043

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs1172191587
• gnomAD v2: 17-78187767-A-G
• gnomAD v4: 17-80213968-A-G
• MyVariant Identifiers: chr17:g.78187767A>G (hg19) ; chr17:g.80213968A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80213968A>G , CM000679.2:g.80213968A>G	GRCh38
NC_000017.10:g.78187767A>G , CM000679.1:g.78187767A>G	GRCh37
NC_000017.9:g.75802362A>G	NCBI36
NG_008229.1:g.11433T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1898A>G (CARD14)
ENST00000326317.11:c.664-83T>C (SGSH) MANE Select	ENSP00000314606.6:n.664-83T>C
ENST00000326317.10:c.664-83T>C (SGSH)	ENSP00000314606.6:n.664-83T>C
ENST00000570923.1:c.699-83T>C (SGSH)	ENSP00000458200.1:n.699-83T>C
ENST00000572208.5:n.531-83T>C (SGSH)
ENST00000572257.5:c.266-83T>C (SGSH)
ENST00000573150.5:c.558-83T>C (SGSH)	ENSP00000459280.1:n.558-83T>C
ENST00000574505.5:c.523-83T>C (SGSH)
ENST00000575282.5:n.876T>C (SGSH)
ENST00000576941.5:c.*80-83T>C (SGSH)	ENSP00000461160.1:n.*80-83T>C
NM_000199.3:c.664-83T>C (SGSH)	NP_000190.1:n.664-83T>C
XM_005257582.2:c.664-83T>C (SGSH)	XP_005257639.1:n.664-83T>C
XM_005257583.3:c.664-83T>C (SGSH)	XP_005257640.1:n.664-83T>C
XM_011525126.1:c.664-83T>C (SGSH)	XP_011523428.1:n.664-83T>C
XM_011525127.1:c.664-83T>C (SGSH)	XP_011523429.1:n.664-83T>C
XR_934532.1:n.684-83T>C (SGSH)
NM_000199.4:c.664-83T>C (SGSH)	NP_000190.1:n.664-83T>C
NM_001352921.1:c.664-83T>C (SGSH)	NP_001339850.1:n.664-83T>C
NM_001352922.1:c.664-83T>C (SGSH)	NP_001339851.1:n.664-83T>C
NR_148201.1:n.645-83T>C (SGSH)
XM_005257583.4:c.664-83T>C (SGSH)	XP_005257640.1:n.664-83T>C
XM_017024952.1:c.664-83T>C (SGSH)	XP_016880441.1:n.664-83T>C
XR_001752585.1:n.684-83T>C (SGSH)
XR_001752586.1:n.684-83T>C (SGSH)
XR_001752587.1:n.684-83T>C (SGSH)
XR_001752588.1:n.684-83T>C (SGSH)
XR_001752589.1:n.684-83T>C (SGSH)
XR_001752590.1:n.684-83T>C (SGSH)
XR_001752591.1:n.684-83T>C (SGSH)
XR_001752592.1:n.684-83T>C (SGSH)
XR_002958057.1:n.684-83T>C (SGSH)
XR_934532.2:n.684-83T>C (SGSH)
NM_000199.5:c.664-83T>C (SGSH) MANE Select	NP_000190.1:n.664-83T>C
NM_001352921.2:c.664-83T>C (SGSH)	NP_001339850.1:n.664-83T>C
NM_001352922.2:c.664-83T>C (SGSH)	NP_001339851.1:n.664-83T>C
NR_148201.2:n.578-83T>C (SGSH)
NM_001352921.3:c.664-83T>C (SGSH)	NP_001339850.1:n.664-83T>C