Canonical Allele Identifier: CA199064

Linked Data

ClinVar Variation Id: 68186
dbSNP Id: rs281875275

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287800G>A , CM000666.2:g.186287800G>A GRCh38
NC_000004.11:g.187208954G>A , CM000666.1:g.187208954G>A GRCh37
NC_000004.10:g.187445948G>A NCBI36
NG_008051.1:g.26837G>A , LRG_583:g.26837G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1693G>A (F11) MANE Select ENSP00000384957.2:p.Glu565Lys
ENST00000264691.4:c.293G>A (F11)
ENST00000264692.8:c.1531G>A (F11) ENSP00000264692.5:p.Glu511Lys
ENST00000403665.6:c.1693G>A (F11) ENSP00000384957.2:p.Glu565Lys
ENST00000503841.1:n.212G>A (F11)
NM_000128.3:c.1693G>A , LRG_583t1:c.1693G>A (F11) NP_000119.1:p.Glu565Lys
NR_033900.1:n.1066+628C>T (F11-AS1)
XM_005262821.2:c.1696G>A (F11) XP_005262878.1:p.Glu566Lys
XM_005262822.2:c.1600G>A (F11) XP_005262879.1:p.Glu534Lys
XM_005262823.2:c.1426G>A (F11) XP_005262880.1:p.Glu476Lys
XM_006714137.1:c.1648G>A (F11) XP_006714200.1:p.Glu550Lys
XM_005262821.4:c.1696G>A (F11) XP_005262878.1:p.Glu566Lys
XM_005262822.4:c.1600G>A (F11) XP_005262879.1:p.Glu534Lys
XM_005262823.4:c.1426G>A (F11) XP_005262880.1:p.Glu476Lys
XM_006714137.3:c.1648G>A (F11) XP_006714200.1:p.Glu550Lys
NM_000128.4:c.1693G>A (F11) MANE Select NP_000119.1:p.Glu565Lys