Canonical Allele Identifier: CA358944207

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286474T>A , CM000666.2:g.186286474T>A GRCh38
NC_000004.11:g.187207628T>A , CM000666.1:g.187207628T>A GRCh37
NC_000004.10:g.187444622T>A NCBI36
NG_008051.1:g.25511T>A , LRG_583:g.25511T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1540T>A (F11) MANE Select ENSP00000384957.2:p.Cys514Ser
ENST00000264691.4:c.176+661T>A (F11)
ENST00000264692.8:c.1378T>A (F11) ENSP00000264692.5:p.Cys460Ser
ENST00000403665.6:c.1540T>A (F11) ENSP00000384957.2:p.Cys514Ser
NM_000128.3:c.1540T>A , LRG_583t1:c.1540T>A (F11) NP_000119.1:p.Cys514Ser
NR_033900.1:n.1067-208A>T (F11-AS1)
XM_005262821.2:c.1543T>A (F11) XP_005262878.1:p.Cys515Ser
XM_005262822.2:c.1483+661T>A (F11) XP_005262879.1:n.1483+661T>A
XM_005262823.2:c.1273T>A (F11) XP_005262880.1:p.Cys425Ser
XM_005262824.1:c.1484-72T>A (F11) XP_005262881.1:n.1484-72T>A
XM_006714137.1:c.1495T>A (F11) XP_006714200.1:p.Cys499Ser
XR_938706.1:n.1948T>A (F11)
XR_938707.1:n.1888+661T>A (F11)
XM_005262821.4:c.1543T>A (F11) XP_005262878.1:p.Cys515Ser
XM_005262822.4:c.1483+661T>A (F11) XP_005262879.1:n.1483+661T>A
XM_005262823.4:c.1273T>A (F11) XP_005262880.1:p.Cys425Ser
XM_006714137.3:c.1495T>A (F11) XP_006714200.1:p.Cys499Ser
XR_001741172.2:n.2014T>A (F11)
NM_000128.4:c.1540T>A (F11) MANE Select NP_000119.1:p.Cys514Ser