Canonical Allele Identifier: CA401356418

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80205615-G-A
• MyVariant Identifiers: chr17:g.78179414G>A (hg19) ; chr17:g.80205615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205615G>A , CM000679.2:g.80205615G>A	GRCh38
NC_000017.10:g.78179414G>A , CM000679.1:g.78179414G>A	GRCh37
NC_000017.9:g.75794009G>A	NCBI36
NG_032778.1:g.40624G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2654G>A (CARD14)	ENSP00000516501.1:p.Trp885Ter
ENST00000703566.1:c.*490G>A (CARD14)	ENSP00000515382.1:n.*490G>A
ENST00000703567.1:c.*490G>A (CARD14)	ENSP00000515383.1:n.*490G>A
ENST00000703568.1:c.*1114G>A (CARD14)	ENSP00000515384.1:n.*1114G>A
ENST00000703569.1:n.2855G>A (CARD14)
ENST00000703570.1:n.1570G>A (CARD14)
ENST00000703571.1:n.1502G>A (CARD14)
ENST00000703572.1:n.538G>A (CARD14)
ENST00000703573.1:n.872G>A (CARD14)
ENST00000648509.2:c.2654G>A (CARD14) MANE Select	ENSP00000498071.1:p.Trp885Ter
ENST00000649277.1:n.1411G>A (CARD14)
ENST00000650867.1:c.*99G>A (CARD14)	ENSP00000498570.1:n.*99G>A
ENST00000651068.1:c.*1013G>A (CARD14)	ENSP00000498274.1:n.*1013G>A
ENST00000651672.1:c.2681G>A (CARD14)	ENSP00000499145.1:p.Trp894Ter
ENST00000344227.6:c.2654G>A (CARD14)	ENSP00000344549.2:p.Trp885Ter
ENST00000573882.5:c.2654G>A (CARD14)	ENSP00000458715.1:p.Trp885Ter
ENST00000575500.5:c.*1114G>A (CARD14)	ENSP00000460883.1:n.*1114G>A
NM_024110.4:c.2654G>A (CARD14)	NP_077015.2:p.Trp885Ter
NR_047566.1:n.2829G>A (CARD14)
XM_011525212.1:c.2654G>A (CARD14)	XP_011523514.1:p.Trp885Ter
XM_011525213.1:c.2654G>A (CARD14)	XP_011523515.1:p.Trp885Ter
XM_011525214.1:c.2654G>A (CARD14)	XP_011523516.1:p.Trp885Ter
XM_011525215.1:c.2654G>A (CARD14)	XP_011523517.1:p.Trp885Ter
XM_011525216.1:c.2654G>A (CARD14)	XP_011523518.1:p.Trp885Ter
XM_011525217.1:c.2654G>A (CARD14)	XP_011523519.1:p.Trp885Ter
XM_011525218.1:c.2654G>A (CARD14)	XP_011523520.1:p.Trp885Ter
XM_011525219.1:c.*99G>A (CARD14)	XP_011523521.1:n.*99G>A
NM_001366385.1:c.2654G>A (CARD14) MANE Select	NP_001353314.1:p.Trp885Ter
XM_011525218.2:c.2654G>A (CARD14)	XP_011523520.1:p.Trp885Ter
XM_024450934.1:c.2651G>A (CARD14)	XP_024306702.1:p.Trp884Ter
XM_024450935.1:c.2654G>A (CARD14)	XP_024306703.1:p.Trp885Ter
XR_001752586.1:n.1481C>T (SGSH)
XR_001752587.1:n.1288C>T (SGSH)
XR_001752588.1:n.1481C>T (SGSH)
XR_001752589.1:n.1481C>T (SGSH)
XR_001752590.1:n.1481C>T (SGSH)
XR_001752591.1:n.1481C>T (SGSH)
XR_001752592.1:n.1481C>T (SGSH)
XR_002958057.1:n.2078C>T (SGSH)
XR_002958065.1:n.2804G>A (CARD14)
NR_047566.2:n.2791G>A (CARD14)