Canonical Allele Identifier: CA401335751

Gene: CARD14

Linked Data

• ClinVar Variation Id: 684673
• ClinVar RCV Id: RCV000845182
• dbSNP Id: rs1598639659
• MyVariant Identifiers: chr17:g.78157742G>C (hg19) ; chr17:g.80183943G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80183943G>C , CM000679.2:g.80183943G>C	GRCh38
NC_000017.10:g.78157742G>C , CM000679.1:g.78157742G>C	GRCh37
NC_000017.9:g.75772337G>C	NCBI36
NG_032778.1:g.18952G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000571427.2:c.380G>C	ENSP00000516501.1:p.Cys127Ser
ENST00000703566.1:c.380G>C	ENSP00000515382.1:p.Cys127Ser
ENST00000703567.1:c.380G>C	ENSP00000515383.1:p.Cys127Ser
ENST00000703568.1:c.380G>C	ENSP00000515384.1:p.Cys127Ser
ENST00000703569.1:n.581G>C
ENST00000648509.2:c.380G>C MANE Select	ENSP00000498071.1:p.Cys127Ser
ENST00000650806.1:n.622G>C
ENST00000650867.1:c.380G>C	ENSP00000498570.1:p.Cys127Ser
ENST00000651068.1:c.380G>C	ENSP00000498274.1:p.Cys127Ser
ENST00000651388.1:c.380G>C	ENSP00000498956.1:p.Cys127Ser
ENST00000651672.1:c.380G>C	ENSP00000499145.1:p.Cys127Ser
ENST00000652599.1:n.816G>C
ENST00000344227.6:c.380G>C	ENSP00000344549.2:p.Cys127Ser
ENST00000570421.5:c.380G>C	ENSP00000461806.1:p.Cys127Ser
ENST00000573882.5:c.380G>C	ENSP00000458715.1:p.Cys127Ser
ENST00000575500.5:c.380G>C	ENSP00000460883.1:p.Cys127Ser
NM_001257970.1:c.380G>C	NP_001244899.1:p.Cys127Ser
NM_024110.4:c.380G>C	NP_077015.2:p.Cys127Ser
NR_047566.1:n.613G>C
XM_011525212.1:c.380G>C	XP_011523514.1:p.Cys127Ser
XM_011525213.1:c.380G>C	XP_011523515.1:p.Cys127Ser
XM_011525214.1:c.380G>C	XP_011523516.1:p.Cys127Ser
XM_011525215.1:c.380G>C	XP_011523517.1:p.Cys127Ser
XM_011525216.1:c.380G>C	XP_011523518.1:p.Cys127Ser
XM_011525217.1:c.380G>C	XP_011523519.1:p.Cys127Ser
XM_011525218.1:c.380G>C	XP_011523520.1:p.Cys127Ser
XM_011525219.1:c.380G>C	XP_011523521.1:p.Cys127Ser
XM_011525220.1:c.380G>C	XP_011523522.1:p.Cys127Ser
XM_011525221.1:c.380G>C	XP_011523523.1:p.Cys127Ser
XM_011525222.1:c.380G>C	XP_011523524.1:p.Cys127Ser
XM_011525223.1:c.380G>C	XP_011523525.1:p.Cys127Ser
XR_934547.1:n.520G>C
NM_001366385.1:c.380G>C MANE Select	NP_001353314.1:p.Cys127Ser
XM_011525218.2:c.380G>C	XP_011523520.1:p.Cys127Ser
XM_024450934.1:c.380G>C	XP_024306702.1:p.Cys127Ser
XM_024450935.1:c.380G>C	XP_024306703.1:p.Cys127Ser
XM_024450936.1:c.380G>C	XP_024306704.1:p.Cys127Ser
XM_024450937.1:c.380G>C	XP_024306705.1:p.Cys127Ser
XR_002958065.1:n.520G>C
XR_002958066.1:n.520G>C
NR_047566.2:n.575G>C