Canonical Allele Identifier: CA3163830
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 989865
ClinVar RCV Id: RCV001277767
dbSNP Id: rs754671641

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280358C>T , CM000666.2:g.186280358C>T GRCh38
NC_000004.11:g.187201512C>T , CM000666.1:g.187201512C>T GRCh37
NC_000004.10:g.187438506C>T NCBI36
NG_008051.1:g.19395C>T , LRG_583:g.19395C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1001C>T MANE Select ENSP00000384957.2:p.Pro334Leu
ENST00000264692.8:c.839C>T ENSP00000264692.5:p.Pro280Leu
ENST00000403665.6:c.1001C>T ENSP00000384957.2:p.Pro334Leu
ENST00000452239.1:c.448C>T
NM_000128.3:c.1001C>T , LRG_583t1:c.1001C>T NP_000119.1:p.Pro334Leu
XM_005262821.2:c.1001C>T XP_005262878.1:p.Pro334Leu
XM_005262822.2:c.1001C>T XP_005262879.1:p.Pro334Leu
XM_005262823.2:c.731C>T XP_005262880.1:p.Pro244Leu
XM_005262824.1:c.1001C>T XP_005262881.1:p.Pro334Leu
XM_006714137.1:c.953C>T XP_006714200.1:p.Pro318Leu
XR_938706.1:n.1353C>T
XR_938707.1:n.1353C>T
XM_005262821.4:c.1001C>T XP_005262878.1:p.Pro334Leu
XM_005262822.4:c.1001C>T XP_005262879.1:p.Pro334Leu
XM_005262823.4:c.731C>T XP_005262880.1:p.Pro244Leu
XM_006714137.3:c.953C>T XP_006714200.1:p.Pro318Leu
XM_017007884.2:c.1001C>T XP_016863373.1:p.Pro334Leu
XM_017007885.2:c.1001C>T XP_016863374.1:p.Pro334Leu
XM_017007886.2:c.1001C>T XP_016863375.1:p.Pro334Leu
XR_001741172.2:n.1334C>T
NM_000128.4:c.1001C>T MANE Select NP_000119.1:p.Pro334Leu