Canonical Allele Identifier: CA358945970

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288492G>C , CM000666.2:g.186288492G>C GRCh38
NC_000004.11:g.187209646G>C , CM000666.1:g.187209646G>C GRCh37
NC_000004.10:g.187446640G>C NCBI36
NG_008051.1:g.27529G>C , LRG_583:g.27529G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1756G>C (F11) MANE Select ENSP00000384957.2:p.Val586Leu
ENST00000264691.4:c.356G>C (F11)
ENST00000264692.8:c.1594G>C (F11) ENSP00000264692.5:p.Val532Leu
ENST00000403665.6:c.1756G>C (F11) ENSP00000384957.2:p.Val586Leu
ENST00000503841.1:n.275G>C (F11)
NM_000128.3:c.1756G>C , LRG_583t1:c.1756G>C (F11) NP_000119.1:p.Val586Leu
NR_033900.1:n.1002C>G (F11-AS1)
XM_005262821.2:c.1759G>C (F11) XP_005262878.1:p.Val587Leu
XM_005262822.2:c.1663G>C (F11) XP_005262879.1:p.Val555Leu
XM_005262823.2:c.1489G>C (F11) XP_005262880.1:p.Val497Leu
XM_006714137.1:c.1711G>C (F11) XP_006714200.1:p.Val571Leu
XM_005262821.4:c.1759G>C (F11) XP_005262878.1:p.Val587Leu
XM_005262822.4:c.1663G>C (F11) XP_005262879.1:p.Val555Leu
XM_005262823.4:c.1489G>C (F11) XP_005262880.1:p.Val497Leu
XM_006714137.3:c.1711G>C (F11) XP_006714200.1:p.Val571Leu
NM_000128.4:c.1756G>C (F11) MANE Select NP_000119.1:p.Val586Leu