Canonical Allele Identifier: CA16040948
Gene: F11 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371138
ClinVar RCV Id: RCV000410709
dbSNP Id: rs1057517035

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285723C>T , CM000666.2:g.186285723C>T GRCh38
NC_000004.11:g.187206877C>T , CM000666.1:g.187206877C>T GRCh37
NC_000004.10:g.187443871C>T NCBI36
NG_008051.1:g.24760C>T , LRG_583:g.24760C>T

Transcript Alleles

HGVS Amino-acid change
NM_000128.3:c.1390C>T , LRG_583t1:c.1390C>T NP_000119.1:p.Gln464Ter
XM_005262821.2:c.1393C>T XP_005262878.1:p.Gln465Ter
XM_005262822.2:c.1393C>T XP_005262879.1:p.Gln465Ter
XM_005262823.2:c.1123C>T XP_005262880.1:p.Gln375Ter
XM_005262824.1:c.1393C>T XP_005262881.1:p.Gln465Ter
XM_006714137.1:c.1345C>T XP_006714200.1:p.Gln449Ter
XR_938706.1:n.1798C>T
XR_938707.1:n.1798C>T
XM_005262821.4:c.1393C>T
XM_005262822.4:c.1393C>T
XM_005262823.4:c.1123C>T
XM_006714137.3:c.1345C>T
XR_001741172.2:n.1864C>T
ENST00000264691.4:n.86C>T
ENST00000264692.8:c.1228C>T ENSP00000264692.5:p.Gln410Ter
ENST00000403665.6:c.1390C>T ENSP00000384957.2:p.Gln464Ter