Canonical Allele Identifier: CA358943124
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1724482
ClinVar RCV Id: RCV002309750

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285684C>T , CM000666.2:g.186285684C>T GRCh38
NC_000004.11:g.187206838C>T , CM000666.1:g.187206838C>T GRCh37
NC_000004.10:g.187443832C>T NCBI36
NG_008051.1:g.24721C>T , LRG_583:g.24721C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1351C>T MANE Select ENSP00000384957.2:p.Gln451Ter
ENST00000264691.4:c.47C>T
ENST00000264692.8:c.1189C>T ENSP00000264692.5:p.Gln397Ter
ENST00000403665.6:c.1351C>T ENSP00000384957.2:p.Gln451Ter
NM_000128.3:c.1351C>T , LRG_583t1:c.1351C>T NP_000119.1:p.Gln451Ter
XM_005262821.2:c.1354C>T XP_005262878.1:p.Gln452Ter
XM_005262822.2:c.1354C>T XP_005262879.1:p.Gln452Ter
XM_005262823.2:c.1084C>T XP_005262880.1:p.Gln362Ter
XM_005262824.1:c.1354C>T XP_005262881.1:p.Gln452Ter
XM_006714137.1:c.1306C>T XP_006714200.1:p.Gln436Ter
XR_938706.1:n.1759C>T
XR_938707.1:n.1759C>T
XM_005262821.4:c.1354C>T XP_005262878.1:p.Gln452Ter
XM_005262822.4:c.1354C>T XP_005262879.1:p.Gln452Ter
XM_005262823.4:c.1084C>T XP_005262880.1:p.Gln362Ter
XM_006714137.3:c.1306C>T XP_006714200.1:p.Gln436Ter
XR_001741172.2:n.1825C>T
NM_000128.4:c.1351C>T MANE Select NP_000119.1:p.Gln451Ter