Canonical Allele Identifier: CA358945578

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287744A>T , CM000666.2:g.186287744A>T GRCh38
NC_000004.11:g.187208898A>T , CM000666.1:g.187208898A>T GRCh37
NC_000004.10:g.187445892A>T NCBI36
NG_008051.1:g.26781A>T , LRG_583:g.26781A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1637A>T (F11) MANE Select ENSP00000384957.2:p.Gln546Leu
ENST00000264691.4:c.237A>T (F11)
ENST00000264692.8:c.1475A>T (F11) ENSP00000264692.5:p.Gln492Leu
ENST00000403665.6:c.1637A>T (F11) ENSP00000384957.2:p.Gln546Leu
ENST00000503841.1:n.156A>T (F11)
NM_000128.3:c.1637A>T , LRG_583t1:c.1637A>T (F11) NP_000119.1:p.Gln546Leu
NR_033900.1:n.1066+684T>A (F11-AS1)
XM_005262821.2:c.1640A>T (F11) XP_005262878.1:p.Gln547Leu
XM_005262822.2:c.1544A>T (F11) XP_005262879.1:p.Gln515Leu
XM_005262823.2:c.1370A>T (F11) XP_005262880.1:p.Gln457Leu
XM_006714137.1:c.1592A>T (F11) XP_006714200.1:p.Gln531Leu
XR_938707.1:n.1949A>T (F11)
XM_005262821.4:c.1640A>T (F11) XP_005262878.1:p.Gln547Leu
XM_005262822.4:c.1544A>T (F11) XP_005262879.1:p.Gln515Leu
XM_005262823.4:c.1370A>T (F11) XP_005262880.1:p.Gln457Leu
XM_006714137.3:c.1592A>T (F11) XP_006714200.1:p.Gln531Leu
NM_000128.4:c.1637A>T (F11) MANE Select NP_000119.1:p.Gln546Leu