Canonical Allele Identifier: CA358945585

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287747A>G , CM000666.2:g.186287747A>G GRCh38
NC_000004.11:g.187208901A>G , CM000666.1:g.187208901A>G GRCh37
NC_000004.10:g.187445895A>G NCBI36
NG_008051.1:g.26784A>G , LRG_583:g.26784A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1640A>G (F11) MANE Select ENSP00000384957.2:p.Lys547Arg
ENST00000264691.4:c.240A>G (F11)
ENST00000264692.8:c.1478A>G (F11) ENSP00000264692.5:p.Lys493Arg
ENST00000403665.6:c.1640A>G (F11) ENSP00000384957.2:p.Lys547Arg
ENST00000503841.1:n.159A>G (F11)
NM_000128.3:c.1640A>G , LRG_583t1:c.1640A>G (F11) NP_000119.1:p.Lys547Arg
NR_033900.1:n.1066+681T>C (F11-AS1)
XM_005262821.2:c.1643A>G (F11) XP_005262878.1:p.Lys548Arg
XM_005262822.2:c.1547A>G (F11) XP_005262879.1:p.Lys516Arg
XM_005262823.2:c.1373A>G (F11) XP_005262880.1:p.Lys458Arg
XM_006714137.1:c.1595A>G (F11) XP_006714200.1:p.Lys532Arg
XR_938707.1:n.1952A>G (F11)
XM_005262821.4:c.1643A>G (F11) XP_005262878.1:p.Lys548Arg
XM_005262822.4:c.1547A>G (F11) XP_005262879.1:p.Lys516Arg
XM_005262823.4:c.1373A>G (F11) XP_005262880.1:p.Lys458Arg
XM_006714137.3:c.1595A>G (F11) XP_006714200.1:p.Lys532Arg
NM_000128.4:c.1640A>G (F11) MANE Select NP_000119.1:p.Lys547Arg