Canonical Allele Identifier: CA358946222

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288555G>C , CM000666.2:g.186288555G>C GRCh38
NC_000004.11:g.187209709G>C , CM000666.1:g.187209709G>C GRCh37
NC_000004.10:g.187446703G>C NCBI36
NG_008051.1:g.27592G>C , LRG_583:g.27592G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1819G>C (F11) MANE Select ENSP00000384957.2:p.Val607Leu
ENST00000264691.4:c.419G>C (F11)
ENST00000264692.8:c.1657G>C (F11) ENSP00000264692.5:p.Val553Leu
ENST00000403665.6:c.1819G>C (F11) ENSP00000384957.2:p.Val607Leu
ENST00000503841.1:n.338G>C (F11)
NM_000128.3:c.1819G>C , LRG_583t1:c.1819G>C (F11) NP_000119.1:p.Val607Leu
NR_033900.1:n.939C>G (F11-AS1)
XM_005262821.2:c.1822G>C (F11) XP_005262878.1:p.Val608Leu
XM_005262822.2:c.1726G>C (F11) XP_005262879.1:p.Val576Leu
XM_005262823.2:c.1552G>C (F11) XP_005262880.1:p.Val518Leu
XM_006714137.1:c.1774G>C (F11) XP_006714200.1:p.Val592Leu
XM_005262821.4:c.1822G>C (F11) XP_005262878.1:p.Val608Leu
XM_005262822.4:c.1726G>C (F11) XP_005262879.1:p.Val576Leu
XM_005262823.4:c.1552G>C (F11) XP_005262880.1:p.Val518Leu
XM_006714137.3:c.1774G>C (F11) XP_006714200.1:p.Val592Leu
NM_000128.4:c.1819G>C (F11) MANE Select NP_000119.1:p.Val607Leu