Canonical Allele Identifier: CA358946292

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288587G>T , CM000666.2:g.186288587G>T GRCh38
NC_000004.11:g.187209741G>T , CM000666.1:g.187209741G>T GRCh37
NC_000004.10:g.187446735G>T NCBI36
NG_008051.1:g.27624G>T , LRG_583:g.27624G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1851G>T (F11) MANE Select ENSP00000384957.2:p.Trp617Cys
ENST00000264691.4:c.451G>T (F11)
ENST00000264692.8:c.1689G>T (F11) ENSP00000264692.5:p.Trp563Cys
ENST00000403665.6:c.1851G>T (F11) ENSP00000384957.2:p.Trp617Cys
ENST00000503841.1:n.370G>T (F11)
NM_000128.3:c.1851G>T , LRG_583t1:c.1851G>T (F11) NP_000119.1:p.Trp617Cys
NR_033900.1:n.907C>A (F11-AS1)
XM_005262821.2:c.1854G>T (F11) XP_005262878.1:p.Trp618Cys
XM_005262822.2:c.1758G>T (F11) XP_005262879.1:p.Trp586Cys
XM_005262823.2:c.1584G>T (F11) XP_005262880.1:p.Trp528Cys
XM_006714137.1:c.1806G>T (F11) XP_006714200.1:p.Trp602Cys
XM_005262821.4:c.1854G>T (F11) XP_005262878.1:p.Trp618Cys
XM_005262822.4:c.1758G>T (F11) XP_005262879.1:p.Trp586Cys
XM_005262823.4:c.1584G>T (F11) XP_005262880.1:p.Trp528Cys
XM_006714137.3:c.1806G>T (F11) XP_006714200.1:p.Trp602Cys
NM_000128.4:c.1851G>T (F11) MANE Select NP_000119.1:p.Trp617Cys