Canonical Allele Identifier: CA358946230

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288559A>G , CM000666.2:g.186288559A>G GRCh38
NC_000004.11:g.187209713A>G , CM000666.1:g.187209713A>G GRCh37
NC_000004.10:g.187446707A>G NCBI36
NG_008051.1:g.27596A>G , LRG_583:g.27596A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1823A>G (F11) MANE Select ENSP00000384957.2:p.Tyr608Cys
ENST00000264691.4:c.423A>G (F11)
ENST00000264692.8:c.1661A>G (F11) ENSP00000264692.5:p.Tyr554Cys
ENST00000403665.6:c.1823A>G (F11) ENSP00000384957.2:p.Tyr608Cys
ENST00000503841.1:n.342A>G (F11)
NM_000128.3:c.1823A>G , LRG_583t1:c.1823A>G (F11) NP_000119.1:p.Tyr608Cys
NR_033900.1:n.935T>C (F11-AS1)
XM_005262821.2:c.1826A>G (F11) XP_005262878.1:p.Tyr609Cys
XM_005262822.2:c.1730A>G (F11) XP_005262879.1:p.Tyr577Cys
XM_005262823.2:c.1556A>G (F11) XP_005262880.1:p.Tyr519Cys
XM_006714137.1:c.1778A>G (F11) XP_006714200.1:p.Tyr593Cys
XM_005262821.4:c.1826A>G (F11) XP_005262878.1:p.Tyr609Cys
XM_005262822.4:c.1730A>G (F11) XP_005262879.1:p.Tyr577Cys
XM_005262823.4:c.1556A>G (F11) XP_005262880.1:p.Tyr519Cys
XM_006714137.3:c.1778A>G (F11) XP_006714200.1:p.Tyr593Cys
NM_000128.4:c.1823A>G (F11) MANE Select NP_000119.1:p.Tyr608Cys