Canonical Allele Identifier: CA358946180

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288538A>T , CM000666.2:g.186288538A>T GRCh38
NC_000004.11:g.187209692A>T , CM000666.1:g.187209692A>T GRCh37
NC_000004.10:g.187446686A>T NCBI36
NG_008051.1:g.27575A>T , LRG_583:g.27575A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1802A>T (F11) MANE Select ENSP00000384957.2:p.Gln601Leu
ENST00000264691.4:c.402A>T (F11)
ENST00000264692.8:c.1640A>T (F11) ENSP00000264692.5:p.Gln547Leu
ENST00000403665.6:c.1802A>T (F11) ENSP00000384957.2:p.Gln601Leu
ENST00000503841.1:n.321A>T (F11)
NM_000128.3:c.1802A>T , LRG_583t1:c.1802A>T (F11) NP_000119.1:p.Gln601Leu
NR_033900.1:n.956T>A (F11-AS1)
XM_005262821.2:c.1805A>T (F11) XP_005262878.1:p.Gln602Leu
XM_005262822.2:c.1709A>T (F11) XP_005262879.1:p.Gln570Leu
XM_005262823.2:c.1535A>T (F11) XP_005262880.1:p.Gln512Leu
XM_006714137.1:c.1757A>T (F11) XP_006714200.1:p.Gln586Leu
XM_005262821.4:c.1805A>T (F11) XP_005262878.1:p.Gln602Leu
XM_005262822.4:c.1709A>T (F11) XP_005262879.1:p.Gln570Leu
XM_005262823.4:c.1535A>T (F11) XP_005262880.1:p.Gln512Leu
XM_006714137.3:c.1757A>T (F11) XP_006714200.1:p.Gln586Leu
NM_000128.4:c.1802A>T (F11) MANE Select NP_000119.1:p.Gln601Leu