Canonical Allele Identifier: CA358945693

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287795A>G , CM000666.2:g.186287795A>G GRCh38
NC_000004.11:g.187208949A>G , CM000666.1:g.187208949A>G GRCh37
NC_000004.10:g.187445943A>G NCBI36
NG_008051.1:g.26832A>G , LRG_583:g.26832A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1688A>G (F11) MANE Select ENSP00000384957.2:p.Tyr563Cys
ENST00000264691.4:c.288A>G (F11)
ENST00000264692.8:c.1526A>G (F11) ENSP00000264692.5:p.Tyr509Cys
ENST00000403665.6:c.1688A>G (F11) ENSP00000384957.2:p.Tyr563Cys
ENST00000503841.1:n.207A>G (F11)
NM_000128.3:c.1688A>G , LRG_583t1:c.1688A>G (F11) NP_000119.1:p.Tyr563Cys
NR_033900.1:n.1066+633T>C (F11-AS1)
XM_005262821.2:c.1691A>G (F11) XP_005262878.1:p.Tyr564Cys
XM_005262822.2:c.1595A>G (F11) XP_005262879.1:p.Tyr532Cys
XM_005262823.2:c.1421A>G (F11) XP_005262880.1:p.Tyr474Cys
XM_006714137.1:c.1643A>G (F11) XP_006714200.1:p.Tyr548Cys
XM_005262821.4:c.1691A>G (F11) XP_005262878.1:p.Tyr564Cys
XM_005262822.4:c.1595A>G (F11) XP_005262879.1:p.Tyr532Cys
XM_005262823.4:c.1421A>G (F11) XP_005262880.1:p.Tyr474Cys
XM_006714137.3:c.1643A>G (F11) XP_006714200.1:p.Tyr548Cys
NM_000128.4:c.1688A>G (F11) MANE Select NP_000119.1:p.Tyr563Cys