Canonical Allele Identifier: CA358945750

Linked Data

dbSNP Id: rs1313989344

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287821A>G , CM000666.2:g.186287821A>G GRCh38
NC_000004.11:g.187208975A>G , CM000666.1:g.187208975A>G GRCh37
NC_000004.10:g.187445969A>G NCBI36
NG_008051.1:g.26858A>G , LRG_583:g.26858A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1714A>G (F11) MANE Select ENSP00000384957.2:p.Lys572Glu
ENST00000264691.4:c.314A>G (F11)
ENST00000264692.8:c.1552A>G (F11) ENSP00000264692.5:p.Lys518Glu
ENST00000403665.6:c.1714A>G (F11) ENSP00000384957.2:p.Lys572Glu
ENST00000503841.1:n.233A>G (F11)
NM_000128.3:c.1714A>G , LRG_583t1:c.1714A>G (F11) NP_000119.1:p.Lys572Glu
NR_033900.1:n.1066+607T>C (F11-AS1)
XM_005262821.2:c.1717A>G (F11) XP_005262878.1:p.Lys573Glu
XM_005262822.2:c.1621A>G (F11) XP_005262879.1:p.Lys541Glu
XM_005262823.2:c.1447A>G (F11) XP_005262880.1:p.Lys483Glu
XM_006714137.1:c.1669A>G (F11) XP_006714200.1:p.Lys557Glu
XM_005262821.4:c.1717A>G (F11) XP_005262878.1:p.Lys573Glu
XM_005262822.4:c.1621A>G (F11) XP_005262879.1:p.Lys541Glu
XM_005262823.4:c.1447A>G (F11) XP_005262880.1:p.Lys483Glu
XM_006714137.3:c.1669A>G (F11) XP_006714200.1:p.Lys557Glu
NM_000128.4:c.1714A>G (F11) MANE Select NP_000119.1:p.Lys572Glu