Canonical Allele Identifier: CA358946174

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288537C>T , CM000666.2:g.186288537C>T GRCh38
NC_000004.11:g.187209691C>T , CM000666.1:g.187209691C>T GRCh37
NC_000004.10:g.187446685C>T NCBI36
NG_008051.1:g.27574C>T , LRG_583:g.27574C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1801C>T (F11) MANE Select ENSP00000384957.2:p.Gln601Ter
ENST00000264691.4:c.401C>T (F11)
ENST00000264692.8:c.1639C>T (F11) ENSP00000264692.5:p.Gln547Ter
ENST00000403665.6:c.1801C>T (F11) ENSP00000384957.2:p.Gln601Ter
ENST00000503841.1:n.320C>T (F11)
NM_000128.3:c.1801C>T , LRG_583t1:c.1801C>T (F11) NP_000119.1:p.Gln601Ter
NR_033900.1:n.957G>A (F11-AS1)
XM_005262821.2:c.1804C>T (F11) XP_005262878.1:p.Gln602Ter
XM_005262822.2:c.1708C>T (F11) XP_005262879.1:p.Gln570Ter
XM_005262823.2:c.1534C>T (F11) XP_005262880.1:p.Gln512Ter
XM_006714137.1:c.1756C>T (F11) XP_006714200.1:p.Gln586Ter
XM_005262821.4:c.1804C>T (F11) XP_005262878.1:p.Gln602Ter
XM_005262822.4:c.1708C>T (F11) XP_005262879.1:p.Gln570Ter
XM_005262823.4:c.1534C>T (F11) XP_005262880.1:p.Gln512Ter
XM_006714137.3:c.1756C>T (F11) XP_006714200.1:p.Gln586Ter
NM_000128.4:c.1801C>T (F11) MANE Select NP_000119.1:p.Gln601Ter