Canonical Allele Identifier: CA358945532

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287724A>C , CM000666.2:g.186287724A>C GRCh38
NC_000004.11:g.187208878A>C , CM000666.1:g.187208878A>C GRCh37
NC_000004.10:g.187445872A>C NCBI36
NG_008051.1:g.26761A>C , LRG_583:g.26761A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1617A>C (F11) MANE Select ENSP00000384957.2:p.Leu539Phe
ENST00000264691.4:c.217A>C (F11)
ENST00000264692.8:c.1455A>C (F11) ENSP00000264692.5:p.Leu485Phe
ENST00000403665.6:c.1617A>C (F11) ENSP00000384957.2:p.Leu539Phe
ENST00000503841.1:n.136A>C (F11)
NM_000128.3:c.1617A>C , LRG_583t1:c.1617A>C (F11) NP_000119.1:p.Leu539Phe
NR_033900.1:n.1066+704T>G (F11-AS1)
XM_005262821.2:c.1620A>C (F11) XP_005262878.1:p.Leu540Phe
XM_005262822.2:c.1524A>C (F11) XP_005262879.1:p.Leu508Phe
XM_005262823.2:c.1350A>C (F11) XP_005262880.1:p.Leu450Phe
XM_006714137.1:c.1572A>C (F11) XP_006714200.1:p.Leu524Phe
XR_938707.1:n.1929A>C (F11)
XM_005262821.4:c.1620A>C (F11) XP_005262878.1:p.Leu540Phe
XM_005262822.4:c.1524A>C (F11) XP_005262879.1:p.Leu508Phe
XM_005262823.4:c.1350A>C (F11) XP_005262880.1:p.Leu450Phe
XM_006714137.3:c.1572A>C (F11) XP_006714200.1:p.Leu524Phe
NM_000128.4:c.1617A>C (F11) MANE Select NP_000119.1:p.Leu539Phe