Canonical Allele Identifier: CA121767
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 11903
ClinVar RCV Id: RCV000012678
dbSNP Id: rs121965071

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284209G>T , CM000666.2:g.186284209G>T GRCh38
NC_000004.11:g.187205363G>T , CM000666.1:g.187205363G>T GRCh37
NC_000004.10:g.187442357G>T NCBI36
NG_008051.1:g.23246G>T , LRG_583:g.23246G>T

Transcript Alleles

HGVS Amino-acid change
NM_000128.3:c.1253G>T , LRG_583t1:c.1253G>T NP_000119.1:p.Gly418Val
XM_005262821.2:c.1256G>T XP_005262878.1:p.Gly419Val
XM_005262822.2:c.1256G>T XP_005262879.1:p.Gly419Val
XM_005262823.2:c.986G>T XP_005262880.1:p.Gly329Val
XM_005262824.1:c.1256G>T XP_005262881.1:p.Gly419Val
XM_006714137.1:c.1208G>T XP_006714200.1:p.Gly403Val
XR_938706.1:n.1661G>T
XR_938707.1:n.1661G>T
XM_005262821.4:c.1256G>T XP_005262878.1:p.Gly419Val
XM_005262822.4:c.1256G>T XP_005262879.1:p.Gly419Val
XM_005262823.4:c.986G>T XP_005262880.1:p.Gly329Val
XM_006714137.3:c.1208G>T XP_006714200.1:p.Gly403Val
XR_001741172.2:n.1727G>T
NM_000128.4:c.1253G>T MANE Select NP_000119.1:p.Gly418Val
ENST00000264692.8:c.1091G>T ENSP00000264692.5:p.Gly364Val
ENST00000403665.6:c.1253G>T ENSP00000384957.2:p.Gly418Val