Canonical Allele Identifier: CA3163944
Gene: F11 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186284244G>A
GRCh37 chr4:g.187205398G>A
Revel Score:
ENST00000403665 (MANE Select) 0.935
ENST00000264692 0.935
gnomAD v2:
4:187205398 G / A
gnomAD v3:
4:186284244 G / A
gnomAD v4:
chr4-186284244-G-A
Joint Max Group AF 0.00028892 (AMR)
Genomes Max Group AF 0.00012868 (AMR)
Exomes Max Group AF 0.00029581 (AMR)
ClinVar RCV:
RCV000383804
RCV000851679
ClinVar Variation:
291081
dbSNP:
753909969
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284244G>A , CM000666.2:g.186284244G>A GRCh38
NC_000004.11:g.187205398G>A , CM000666.1:g.187205398G>A GRCh37
NC_000004.10:g.187442392G>A NCBI36
NG_008051.1:g.23281G>A , LRG_583:g.23281G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1288G>A MANE Select ENSP00000384957.2:p.Ala430Thr
ENST00000264692.8:c.1126G>A ENSP00000264692.5:p.Ala376Thr
ENST00000403665.6:c.1288G>A ENSP00000384957.2:p.Ala430Thr
NM_000128.3:c.1288G>A , LRG_583t1:c.1288G>A NP_000119.1:p.Ala430Thr
XM_005262821.2:c.1291G>A XP_005262878.1:p.Ala431Thr
XM_005262822.2:c.1291G>A XP_005262879.1:p.Ala431Thr
XM_005262823.2:c.1021G>A XP_005262880.1:p.Ala341Thr
XM_005262824.1:c.1291G>A XP_005262881.1:p.Ala431Thr
XM_006714137.1:c.1243G>A XP_006714200.1:p.Ala415Thr
XR_938706.1:n.1696G>A
XR_938707.1:n.1696G>A
XM_005262821.4:c.1291G>A XP_005262878.1:p.Ala431Thr
XM_005262822.4:c.1291G>A XP_005262879.1:p.Ala431Thr
XM_005262823.4:c.1021G>A XP_005262880.1:p.Ala341Thr
XM_006714137.3:c.1243G>A XP_006714200.1:p.Ala415Thr
XR_001741172.2:n.1762G>A
NM_000128.4:c.1288G>A MANE Select NP_000119.1:p.Ala430Thr
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