Canonical Allele Identifier: CA3163936
Gene: F11 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186284211T>A
GRCh37 chr4:g.187205365T>A
Revel Score:
ENST00000403665 (MANE Select) 0.602
ENST00000264692 0.602
gnomAD v2:
4:187205365 T / A
gnomAD v3:
4:186284211 T / A
gnomAD v4:
chr4-186284211-T-A
Joint Max Group AF 0.00147265 (SAS)
Genomes Max Group AF 0.00097088 (SAS)
Exomes Max Group AF 0.001458 (SAS)
ClinVar RCV:
RCV001479237
RCV001832626
ClinVar Variation:
1141692
dbSNP:
568173895
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284211T>A , CM000666.2:g.186284211T>A GRCh38
NC_000004.11:g.187205365T>A , CM000666.1:g.187205365T>A GRCh37
NC_000004.10:g.187442359T>A NCBI36
NG_008051.1:g.23248T>A , LRG_583:g.23248T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1255T>A MANE Select ENSP00000384957.2:p.Ser419Thr
ENST00000264692.8:c.1093T>A ENSP00000264692.5:p.Ser365Thr
ENST00000403665.6:c.1255T>A ENSP00000384957.2:p.Ser419Thr
NM_000128.3:c.1255T>A , LRG_583t1:c.1255T>A NP_000119.1:p.Ser419Thr
XM_005262821.2:c.1258T>A XP_005262878.1:p.Ser420Thr
XM_005262822.2:c.1258T>A XP_005262879.1:p.Ser420Thr
XM_005262823.2:c.988T>A XP_005262880.1:p.Ser330Thr
XM_005262824.1:c.1258T>A XP_005262881.1:p.Ser420Thr
XM_006714137.1:c.1210T>A XP_006714200.1:p.Ser404Thr
XR_938706.1:n.1663T>A
XR_938707.1:n.1663T>A
XM_005262821.4:c.1258T>A XP_005262878.1:p.Ser420Thr
XM_005262822.4:c.1258T>A XP_005262879.1:p.Ser420Thr
XM_005262823.4:c.988T>A XP_005262880.1:p.Ser330Thr
XM_006714137.3:c.1210T>A XP_006714200.1:p.Ser404Thr
XR_001741172.2:n.1729T>A
NM_000128.4:c.1255T>A MANE Select NP_000119.1:p.Ser419Thr
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