Canonical Allele Identifier: CA358959225
Community Standard Title: NM_000128.4(F11):c.688T>A (p.Cys230Ser)
Gene: F11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186276323T>A , CM000666.2:g.186276323T>A GRCh38
NC_000004.11:g.187197477T>A , CM000666.1:g.187197477T>A GRCh37
NC_000004.10:g.187434471T>A NCBI36
NG_008051.1:g.15360T>A , LRG_583:g.15360T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000128.4:c.688T>A MANE Select NP_000119.1:p.Cys230Ser
ENST00000403665.7:c.688T>A MANE Select ENSP00000384957.2:p.Cys230Ser
NM_000128.3:c.688T>A , LRG_583t1:c.688T>A NP_000119.1:p.Cys230Ser
ENST00000264692.8:c.526T>A ENSP00000264692.5:p.Cys176Ser
ENST00000403665.6:c.688T>A ENSP00000384957.2:p.Cys230Ser
ENST00000452239.1:c.135T>A
XM_005262821.2:c.688T>A XP_005262878.1:p.Cys230Ser
XM_005262821.4:c.688T>A XP_005262878.1:p.Cys230Ser
XM_005262822.2:c.688T>A XP_005262879.1:p.Cys230Ser
XM_005262822.4:c.688T>A XP_005262879.1:p.Cys230Ser
XM_005262823.2:c.485+2048T>A XP_005262880.1:n.485+2048T>A
XM_005262823.4:c.485+2048T>A XP_005262880.1:n.485+2048T>A
XM_005262824.1:c.688T>A XP_005262881.1:p.Cys230Ser
XM_006714137.1:c.688T>A XP_006714200.1:p.Cys230Ser
XM_006714137.3:c.688T>A XP_006714200.1:p.Cys230Ser
XM_017007884.2:c.688T>A XP_016863373.1:p.Cys230Ser
XM_017007885.2:c.688T>A XP_016863374.1:p.Cys230Ser
XM_017007886.2:c.688T>A XP_016863375.1:p.Cys230Ser
XR_001741172.2:n.1021T>A
XR_938706.1:n.1040T>A
XR_938707.1:n.1040T>A