Canonical Allele Identifier: CA294883743

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs964442846
• gnomAD v4: 17-80205606-G-T
• MyVariant Identifiers: chr17:g.78179405G>T (hg19) ; chr17:g.80205606G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205606G>T , CM000679.2:g.80205606G>T	GRCh38
NC_000017.10:g.78179405G>T , CM000679.1:g.78179405G>T	GRCh37
NC_000017.9:g.75794000G>T	NCBI36
NG_032778.1:g.40615G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2645G>T (CARD14)	ENSP00000516501.1:p.Gly882Val
ENST00000703566.1:c.*481G>T (CARD14)	ENSP00000515382.1:n.*481G>T
ENST00000703567.1:c.*481G>T (CARD14)	ENSP00000515383.1:n.*481G>T
ENST00000703568.1:c.*1105G>T (CARD14)	ENSP00000515384.1:n.*1105G>T
ENST00000703569.1:n.2846G>T (CARD14)
ENST00000703570.1:n.1561G>T (CARD14)
ENST00000703571.1:n.1493G>T (CARD14)
ENST00000703572.1:n.529G>T (CARD14)
ENST00000703573.1:n.863G>T (CARD14)
ENST00000648509.2:c.2645G>T (CARD14) MANE Select	ENSP00000498071.1:p.Gly882Val
ENST00000649277.1:n.1402G>T (CARD14)
ENST00000650867.1:c.*90G>T (CARD14)	ENSP00000498570.1:n.*90G>T
ENST00000651068.1:c.*1004G>T (CARD14)	ENSP00000498274.1:n.*1004G>T
ENST00000651672.1:c.2672G>T (CARD14)	ENSP00000499145.1:p.Gly891Val
ENST00000344227.6:c.2645G>T (CARD14)	ENSP00000344549.2:p.Gly882Val
ENST00000573882.5:c.2645G>T (CARD14)	ENSP00000458715.1:p.Gly882Val
ENST00000575500.5:c.*1105G>T (CARD14)	ENSP00000460883.1:n.*1105G>T
NM_024110.4:c.2645G>T (CARD14)	NP_077015.2:p.Gly882Val
NR_047566.1:n.2820G>T (CARD14)
XM_011525212.1:c.2645G>T (CARD14)	XP_011523514.1:p.Gly882Val
XM_011525213.1:c.2645G>T (CARD14)	XP_011523515.1:p.Gly882Val
XM_011525214.1:c.2645G>T (CARD14)	XP_011523516.1:p.Gly882Val
XM_011525215.1:c.2645G>T (CARD14)	XP_011523517.1:p.Gly882Val
XM_011525216.1:c.2645G>T (CARD14)	XP_011523518.1:p.Gly882Val
XM_011525217.1:c.2645G>T (CARD14)	XP_011523519.1:p.Gly882Val
XM_011525218.1:c.2645G>T (CARD14)	XP_011523520.1:p.Gly882Val
XM_011525219.1:c.*90G>T (CARD14)	XP_011523521.1:n.*90G>T
NM_001366385.1:c.2645G>T (CARD14) MANE Select	NP_001353314.1:p.Gly882Val
XM_011525218.2:c.2645G>T (CARD14)	XP_011523520.1:p.Gly882Val
XM_024450934.1:c.2642G>T (CARD14)	XP_024306702.1:p.Gly881Val
XM_024450935.1:c.2645G>T (CARD14)	XP_024306703.1:p.Gly882Val
XR_001752586.1:n.1490C>A (SGSH)
XR_001752587.1:n.1297C>A (SGSH)
XR_001752588.1:n.1490C>A (SGSH)
XR_001752589.1:n.1490C>A (SGSH)
XR_001752590.1:n.1490C>A (SGSH)
XR_001752591.1:n.1490C>A (SGSH)
XR_001752592.1:n.1490C>A (SGSH)
XR_002958057.1:n.2087C>A (SGSH)
XR_002958065.1:n.2795G>T (CARD14)
NR_047566.2:n.2782G>T (CARD14)