Allele Registry

Canonical Allele Identifier: CA16618450

Gene: CARD11 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr7:g.2913383G>A

GRCh37 chr7:g.2953017G>A

Revel Score:

ENST00000396946 (MANE Select) 0.664

Linked Data - Sequence & Population

gnomAD v2:

7:2953017 G / A

gnomAD v4:

chr7-2913383-G-A

Joint Max Group AF 7.9e-7 (NFE)

Exomes Max Group AF 8.4e-7 (NFE)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000484392

RCV000499590

RCV003766695

ClinVar Variation:

421704

dbSNP:

1064795307

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.2913383G>A , CM000669.2:g.2913383G>A	GRCh38
NC_000007.13:g.2953017G>A , CM000669.1:g.2953017G>A	GRCh37
NC_000007.12:g.2919543G>A	NCBI36
NG_027759.1:g.135493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698637.1:n.4033C>T
ENST00000698652.1:n.1879C>T
ENST00000396946.9:c.2923C>T MANE Select	ENSP00000380150.4:p.Arg975Trp
ENST00000396946.8:c.2923C>T	ENSP00000380150.4:p.Arg975Trp
NM_032415.5:c.2923C>T	NP_115791.3:p.Arg975Trp
XM_011515585.1:c.2923C>T	XP_011513887.1:p.Arg975Trp
XM_011515586.1:c.2923C>T	XP_011513888.1:p.Arg975Trp
XM_011515587.1:c.2920C>T	XP_011513889.1:p.Arg974Trp
NM_001324281.1:c.2923C>T	NP_001311210.1:p.Arg975Trp
XM_011515586.2:c.2923C>T	XP_011513888.1:p.Arg975Trp
XM_011515587.2:c.2920C>T	XP_011513889.1:p.Arg974Trp
NM_001324281.2:c.2923C>T	NP_001311210.1:p.Arg975Trp
NM_032415.6:c.2923C>T	NP_115791.3:p.Arg975Trp
NM_001324281.3:c.2923C>T	NP_001311210.1:p.Arg975Trp
NM_032415.7:c.2923C>T MANE Select	NP_115791.3:p.Arg975Trp

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