Canonical Allele Identifier: CA2640306948

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80205514-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205514T>C , CM000679.2:g.80205514T>C	GRCh38
NC_000017.10:g.78179313T>C , CM000679.1:g.78179313T>C	GRCh37
NC_000017.9:g.75793908T>C	NCBI36
NG_032778.1:g.40523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000571427.2:c.2570-17T>C (CARD14)	ENSP00000516501.1:n.2570-17T>C
ENST00000703566.1:c.*406-17T>C (CARD14)	ENSP00000515382.1:n.*406-17T>C
ENST00000703567.1:c.*406-17T>C (CARD14)	ENSP00000515383.1:n.*406-17T>C
ENST00000703568.1:c.*1030-17T>C (CARD14)	ENSP00000515384.1:n.*1030-17T>C
ENST00000703569.1:n.2771-17T>C (CARD14)
ENST00000703570.1:n.1486-17T>C (CARD14)
ENST00000703571.1:n.1418-17T>C (CARD14)
ENST00000703572.1:n.454-17T>C (CARD14)
ENST00000703573.1:n.788-17T>C (CARD14)
ENST00000648509.2:c.2570-17T>C (CARD14) MANE Select	ENSP00000498071.1:n.2570-17T>C
ENST00000649277.1:n.1327-17T>C (CARD14)
ENST00000650867.1:c.*15-17T>C (CARD14)	ENSP00000498570.1:n.*15-17T>C
ENST00000651068.1:c.*929-17T>C (CARD14)	ENSP00000498274.1:n.*929-17T>C
ENST00000651672.1:c.2597-17T>C (CARD14)	ENSP00000499145.1:n.2597-17T>C
ENST00000344227.6:c.2570-17T>C (CARD14)	ENSP00000344549.2:n.2570-17T>C
ENST00000573882.5:c.2570-17T>C (CARD14)	ENSP00000458715.1:n.2570-17T>C
ENST00000575500.5:c.*1030-17T>C (CARD14)	ENSP00000460883.1:n.*1030-17T>C
NM_024110.4:c.2570-17T>C (CARD14)	NP_077015.2:n.2570-17T>C
NR_047566.1:n.2745-17T>C (CARD14)
XM_011525212.1:c.2570-17T>C (CARD14)	XP_011523514.1:n.2570-17T>C
XM_011525213.1:c.2570-17T>C (CARD14)	XP_011523515.1:n.2570-17T>C
XM_011525214.1:c.2570-17T>C (CARD14)	XP_011523516.1:n.2570-17T>C
XM_011525215.1:c.2570-17T>C (CARD14)	XP_011523517.1:n.2570-17T>C
XM_011525216.1:c.2570-17T>C (CARD14)	XP_011523518.1:n.2570-17T>C
XM_011525217.1:c.2570-17T>C (CARD14)	XP_011523519.1:n.2570-17T>C
XM_011525218.1:c.2570-17T>C (CARD14)	XP_011523520.1:n.2570-17T>C
XM_011525219.1:c.*15-17T>C (CARD14)	XP_011523521.1:n.*15-17T>C
NM_001366385.1:c.2570-17T>C (CARD14) MANE Select	NP_001353314.1:n.2570-17T>C
XM_011525218.2:c.2570-17T>C (CARD14)	XP_011523520.1:n.2570-17T>C
XM_024450934.1:c.2567-17T>C (CARD14)	XP_024306702.1:n.2567-17T>C
XM_024450935.1:c.2570-17T>C (CARD14)	XP_024306703.1:n.2570-17T>C
XR_001752586.1:n.1582A>G (SGSH)
XR_001752587.1:n.1389A>G (SGSH)
XR_001752588.1:n.1582A>G (SGSH)
XR_001752589.1:n.1582A>G (SGSH)
XR_001752590.1:n.1582A>G (SGSH)
XR_001752591.1:n.1582A>G (SGSH)
XR_001752592.1:n.1571+11A>G (SGSH)
XR_002958057.1:n.2179A>G (SGSH)
XR_002958065.1:n.2720-17T>C (CARD14)
NR_047566.2:n.2707-17T>C (CARD14)