Canonical Allele Identifier: CA3163989
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2732555
ClinVar RCV Id: RCV003561847
dbSNP Id: rs140701132

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186285824T>C , CM000666.2:g.186285824T>C GRCh38
NC_000004.11:g.187206978T>C , CM000666.1:g.187206978T>C GRCh37
NC_000004.10:g.187443972T>C NCBI36
NG_008051.1:g.24861T>C , LRG_583:g.24861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1480+11T>C MANE Select ENSP00000384957.2:n.1480+11T>C
ENST00000264691.4:c.176+11T>C
ENST00000264692.8:c.1318+11T>C ENSP00000264692.5:n.1318+11T>C
ENST00000403665.6:c.1480+11T>C ENSP00000384957.2:n.1480+11T>C
NM_000128.3:c.1480+11T>C , LRG_583t1:c.1480+11T>C NP_000119.1:n.1480+11T>C
XM_005262821.2:c.1483+11T>C XP_005262878.1:n.1483+11T>C
XM_005262822.2:c.1483+11T>C XP_005262879.1:n.1483+11T>C
XM_005262823.2:c.1213+11T>C XP_005262880.1:n.1213+11T>C
XM_005262824.1:c.1483+11T>C XP_005262881.1:n.1483+11T>C
XM_006714137.1:c.1435+11T>C XP_006714200.1:n.1435+11T>C
XR_938706.1:n.1888+11T>C
XR_938707.1:n.1888+11T>C
XM_005262821.4:c.1483+11T>C XP_005262878.1:n.1483+11T>C
XM_005262822.4:c.1483+11T>C XP_005262879.1:n.1483+11T>C
XM_005262823.4:c.1213+11T>C XP_005262880.1:n.1213+11T>C
XM_006714137.3:c.1435+11T>C XP_006714200.1:n.1435+11T>C
XR_001741172.2:n.1954+11T>C
NM_000128.4:c.1480+11T>C MANE Select NP_000119.1:n.1480+11T>C