Canonical Allele Identifier: CA401356394

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80205602-G-T
• MyVariant Identifiers: chr17:g.78179401G>T (hg19) ; chr17:g.80205602G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205602G>T , CM000679.2:g.80205602G>T	GRCh38
NC_000017.10:g.78179401G>T , CM000679.1:g.78179401G>T	GRCh37
NC_000017.9:g.75793996G>T	NCBI36
NG_032778.1:g.40611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000571427.2:c.2641G>T (CARD14)	ENSP00000516501.1:p.Gly881Trp
ENST00000703566.1:c.*477G>T (CARD14)	ENSP00000515382.1:n.*477G>T
ENST00000703567.1:c.*477G>T (CARD14)	ENSP00000515383.1:n.*477G>T
ENST00000703568.1:c.*1101G>T (CARD14)	ENSP00000515384.1:n.*1101G>T
ENST00000703569.1:n.2842G>T (CARD14)
ENST00000703570.1:n.1557G>T (CARD14)
ENST00000703571.1:n.1489G>T (CARD14)
ENST00000703572.1:n.525G>T (CARD14)
ENST00000703573.1:n.859G>T (CARD14)
ENST00000648509.2:c.2641G>T (CARD14) MANE Select	ENSP00000498071.1:p.Gly881Trp
ENST00000649277.1:n.1398G>T (CARD14)
ENST00000650867.1:c.*86G>T (CARD14)	ENSP00000498570.1:n.*86G>T
ENST00000651068.1:c.*1000G>T (CARD14)	ENSP00000498274.1:n.*1000G>T
ENST00000651672.1:c.2668G>T (CARD14)	ENSP00000499145.1:p.Gly890Trp
ENST00000344227.6:c.2641G>T (CARD14)	ENSP00000344549.2:p.Gly881Trp
ENST00000573882.5:c.2641G>T (CARD14)	ENSP00000458715.1:p.Gly881Trp
ENST00000575500.5:c.*1101G>T (CARD14)	ENSP00000460883.1:n.*1101G>T
NM_024110.4:c.2641G>T (CARD14)	NP_077015.2:p.Gly881Trp
NR_047566.1:n.2816G>T (CARD14)
XM_011525212.1:c.2641G>T (CARD14)	XP_011523514.1:p.Gly881Trp
XM_011525213.1:c.2641G>T (CARD14)	XP_011523515.1:p.Gly881Trp
XM_011525214.1:c.2641G>T (CARD14)	XP_011523516.1:p.Gly881Trp
XM_011525215.1:c.2641G>T (CARD14)	XP_011523517.1:p.Gly881Trp
XM_011525216.1:c.2641G>T (CARD14)	XP_011523518.1:p.Gly881Trp
XM_011525217.1:c.2641G>T (CARD14)	XP_011523519.1:p.Gly881Trp
XM_011525218.1:c.2641G>T (CARD14)	XP_011523520.1:p.Gly881Trp
XM_011525219.1:c.*86G>T (CARD14)	XP_011523521.1:n.*86G>T
NM_001366385.1:c.2641G>T (CARD14) MANE Select	NP_001353314.1:p.Gly881Trp
XM_011525218.2:c.2641G>T (CARD14)	XP_011523520.1:p.Gly881Trp
XM_024450934.1:c.2638G>T (CARD14)	XP_024306702.1:p.Gly880Trp
XM_024450935.1:c.2641G>T (CARD14)	XP_024306703.1:p.Gly881Trp
XR_001752586.1:n.1494C>A (SGSH)
XR_001752587.1:n.1301C>A (SGSH)
XR_001752588.1:n.1494C>A (SGSH)
XR_001752589.1:n.1494C>A (SGSH)
XR_001752590.1:n.1494C>A (SGSH)
XR_001752591.1:n.1494C>A (SGSH)
XR_001752592.1:n.1494C>A (SGSH)
XR_002958057.1:n.2091C>A (SGSH)
XR_002958065.1:n.2791G>T (CARD14)
NR_047566.2:n.2778G>T (CARD14)