Canonical Allele Identifier: CA401336572

Gene: CARD14

Linked Data

• gnomAD v4: 17-80184048-T-A
• MyVariant Identifiers: chr17:g.78157847T>A (hg19) ; chr17:g.80184048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80184048T>A , CM000679.2:g.80184048T>A	GRCh38
NC_000017.10:g.78157847T>A , CM000679.1:g.78157847T>A	GRCh37
NC_000017.9:g.75772442T>A	NCBI36
NG_032778.1:g.19057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000571427.2:c.485T>A	ENSP00000516501.1:p.Leu162Gln
ENST00000703566.1:c.485T>A	ENSP00000515382.1:p.Leu162Gln
ENST00000703567.1:c.485T>A	ENSP00000515383.1:p.Leu162Gln
ENST00000703568.1:c.485T>A	ENSP00000515384.1:p.Leu162Gln
ENST00000703569.1:n.686T>A
ENST00000648128.1:c.57T>A
ENST00000648509.2:c.485T>A MANE Select	ENSP00000498071.1:p.Leu162Gln
ENST00000650806.1:n.727T>A
ENST00000650867.1:c.485T>A	ENSP00000498570.1:p.Leu162Gln
ENST00000651068.1:c.485T>A	ENSP00000498274.1:p.Leu162Gln
ENST00000651388.1:c.485T>A	ENSP00000498956.1:p.Leu162Gln
ENST00000651672.1:c.485T>A	ENSP00000499145.1:p.Leu162Gln
ENST00000652599.1:n.921T>A
ENST00000344227.6:c.485T>A	ENSP00000344549.2:p.Leu162Gln
ENST00000570421.5:c.485T>A	ENSP00000461806.1:p.Leu162Gln
ENST00000573882.5:c.485T>A	ENSP00000458715.1:p.Leu162Gln
ENST00000575500.5:c.485T>A	ENSP00000460883.1:p.Leu162Gln
NM_001257970.1:c.485T>A	NP_001244899.1:p.Leu162Gln
NM_024110.4:c.485T>A	NP_077015.2:p.Leu162Gln
NR_047566.1:n.718T>A
XM_011525212.1:c.485T>A	XP_011523514.1:p.Leu162Gln
XM_011525213.1:c.485T>A	XP_011523515.1:p.Leu162Gln
XM_011525214.1:c.485T>A	XP_011523516.1:p.Leu162Gln
XM_011525215.1:c.485T>A	XP_011523517.1:p.Leu162Gln
XM_011525216.1:c.485T>A	XP_011523518.1:p.Leu162Gln
XM_011525217.1:c.485T>A	XP_011523519.1:p.Leu162Gln
XM_011525218.1:c.485T>A	XP_011523520.1:p.Leu162Gln
XM_011525219.1:c.485T>A	XP_011523521.1:p.Leu162Gln
XM_011525220.1:c.485T>A	XP_011523522.1:p.Leu162Gln
XM_011525221.1:c.485T>A	XP_011523523.1:p.Leu162Gln
XM_011525222.1:c.485T>A	XP_011523524.1:p.Leu162Gln
XM_011525223.1:c.485T>A	XP_011523525.1:p.Leu162Gln
XR_934547.1:n.625T>A
NM_001366385.1:c.485T>A MANE Select	NP_001353314.1:p.Leu162Gln
XM_011525218.2:c.485T>A	XP_011523520.1:p.Leu162Gln
XM_024450934.1:c.485T>A	XP_024306702.1:p.Leu162Gln
XM_024450935.1:c.485T>A	XP_024306703.1:p.Leu162Gln
XM_024450936.1:c.485T>A	XP_024306704.1:p.Leu162Gln
XM_024450937.1:c.485T>A	XP_024306705.1:p.Leu162Gln
XR_002958065.1:n.625T>A
XR_002958066.1:n.625T>A
NR_047566.2:n.680T>A