Canonical Allele Identifier: CA442641384

Linked Data

dbSNP Id: rs1404228435

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288533T>C , CM000666.2:g.186288533T>C GRCh38
NC_000004.11:g.187209687T>C , CM000666.1:g.187209687T>C GRCh37
NC_000004.10:g.187446681T>C NCBI36
NG_008051.1:g.27570T>C , LRG_583:g.27570T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1797T>C (F11) MANE Select ENSP00000384957.2:p.Cys599=
ENST00000264691.4:c.397T>C (F11)
ENST00000264692.8:c.1635T>C (F11) ENSP00000264692.5:p.Cys545=
ENST00000403665.6:c.1797T>C (F11) ENSP00000384957.2:p.Cys599=
ENST00000503841.1:n.316T>C (F11)
NM_000128.3:c.1797T>C , LRG_583t1:c.1797T>C (F11) NP_000119.1:p.Cys599=
NR_033900.1:n.961A>G (F11-AS1)
XM_005262821.2:c.1800T>C (F11) XP_005262878.1:p.Cys600=
XM_005262822.2:c.1704T>C (F11) XP_005262879.1:p.Cys568=
XM_005262823.2:c.1530T>C (F11) XP_005262880.1:p.Cys510=
XM_006714137.1:c.1752T>C (F11) XP_006714200.1:p.Cys584=
XM_005262821.4:c.1800T>C (F11) XP_005262878.1:p.Cys600=
XM_005262822.4:c.1704T>C (F11) XP_005262879.1:p.Cys568=
XM_005262823.4:c.1530T>C (F11) XP_005262880.1:p.Cys510=
XM_006714137.3:c.1752T>C (F11) XP_006714200.1:p.Cys584=
NM_000128.4:c.1797T>C (F11) MANE Select NP_000119.1:p.Cys599=