Canonical Allele Identifier: CA401356412

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80205613-C-A
• MyVariant Identifiers: chr17:g.78179412C>A (hg19) ; chr17:g.80205613C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205613C>A , CM000679.2:g.80205613C>A	GRCh38
NC_000017.10:g.78179412C>A , CM000679.1:g.78179412C>A	GRCh37
NC_000017.9:g.75794007C>A	NCBI36
NG_032778.1:g.40622C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2652C>A (CARD14)	ENSP00000516501.1:p.Cys884Ter
ENST00000703566.1:c.*488C>A (CARD14)	ENSP00000515382.1:n.*488C>A
ENST00000703567.1:c.*488C>A (CARD14)	ENSP00000515383.1:n.*488C>A
ENST00000703568.1:c.*1112C>A (CARD14)	ENSP00000515384.1:n.*1112C>A
ENST00000703569.1:n.2853C>A (CARD14)
ENST00000703570.1:n.1568C>A (CARD14)
ENST00000703571.1:n.1500C>A (CARD14)
ENST00000703572.1:n.536C>A (CARD14)
ENST00000703573.1:n.870C>A (CARD14)
ENST00000648509.2:c.2652C>A (CARD14) MANE Select	ENSP00000498071.1:p.Cys884Ter
ENST00000649277.1:n.1409C>A (CARD14)
ENST00000650867.1:c.*97C>A (CARD14)	ENSP00000498570.1:n.*97C>A
ENST00000651068.1:c.*1011C>A (CARD14)	ENSP00000498274.1:n.*1011C>A
ENST00000651672.1:c.2679C>A (CARD14)	ENSP00000499145.1:p.Cys893Ter
ENST00000344227.6:c.2652C>A (CARD14)	ENSP00000344549.2:p.Cys884Ter
ENST00000573882.5:c.2652C>A (CARD14)	ENSP00000458715.1:p.Cys884Ter
ENST00000575500.5:c.*1112C>A (CARD14)	ENSP00000460883.1:n.*1112C>A
NM_024110.4:c.2652C>A (CARD14)	NP_077015.2:p.Cys884Ter
NR_047566.1:n.2827C>A (CARD14)
XM_011525212.1:c.2652C>A (CARD14)	XP_011523514.1:p.Cys884Ter
XM_011525213.1:c.2652C>A (CARD14)	XP_011523515.1:p.Cys884Ter
XM_011525214.1:c.2652C>A (CARD14)	XP_011523516.1:p.Cys884Ter
XM_011525215.1:c.2652C>A (CARD14)	XP_011523517.1:p.Cys884Ter
XM_011525216.1:c.2652C>A (CARD14)	XP_011523518.1:p.Cys884Ter
XM_011525217.1:c.2652C>A (CARD14)	XP_011523519.1:p.Cys884Ter
XM_011525218.1:c.2652C>A (CARD14)	XP_011523520.1:p.Cys884Ter
XM_011525219.1:c.*97C>A (CARD14)	XP_011523521.1:n.*97C>A
NM_001366385.1:c.2652C>A (CARD14) MANE Select	NP_001353314.1:p.Cys884Ter
XM_011525218.2:c.2652C>A (CARD14)	XP_011523520.1:p.Cys884Ter
XM_024450934.1:c.2649C>A (CARD14)	XP_024306702.1:p.Cys883Ter
XM_024450935.1:c.2652C>A (CARD14)	XP_024306703.1:p.Cys884Ter
XR_001752586.1:n.1483G>T (SGSH)
XR_001752587.1:n.1290G>T (SGSH)
XR_001752588.1:n.1483G>T (SGSH)
XR_001752589.1:n.1483G>T (SGSH)
XR_001752590.1:n.1483G>T (SGSH)
XR_001752591.1:n.1483G>T (SGSH)
XR_001752592.1:n.1483G>T (SGSH)
XR_002958057.1:n.2080G>T (SGSH)
XR_002958065.1:n.2802C>A (CARD14)
NR_047566.2:n.2789C>A (CARD14)