Canonical Allele Identifier: CA358945539

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287728A>C , CM000666.2:g.186287728A>C GRCh38
NC_000004.11:g.187208882A>C , CM000666.1:g.187208882A>C GRCh37
NC_000004.10:g.187445876A>C NCBI36
NG_008051.1:g.26765A>C , LRG_583:g.26765A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1621A>C (F11) MANE Select ENSP00000384957.2:p.Thr541Pro
ENST00000264691.4:c.221A>C (F11)
ENST00000264692.8:c.1459A>C (F11) ENSP00000264692.5:p.Thr487Pro
ENST00000403665.6:c.1621A>C (F11) ENSP00000384957.2:p.Thr541Pro
ENST00000503841.1:n.140A>C (F11)
NM_000128.3:c.1621A>C , LRG_583t1:c.1621A>C (F11) NP_000119.1:p.Thr541Pro
NR_033900.1:n.1066+700T>G (F11-AS1)
XM_005262821.2:c.1624A>C (F11) XP_005262878.1:p.Thr542Pro
XM_005262822.2:c.1528A>C (F11) XP_005262879.1:p.Thr510Pro
XM_005262823.2:c.1354A>C (F11) XP_005262880.1:p.Thr452Pro
XM_006714137.1:c.1576A>C (F11) XP_006714200.1:p.Thr526Pro
XR_938707.1:n.1933A>C (F11)
XM_005262821.4:c.1624A>C (F11) XP_005262878.1:p.Thr542Pro
XM_005262822.4:c.1528A>C (F11) XP_005262879.1:p.Thr510Pro
XM_005262823.4:c.1354A>C (F11) XP_005262880.1:p.Thr452Pro
XM_006714137.3:c.1576A>C (F11) XP_006714200.1:p.Thr526Pro
NM_000128.4:c.1621A>C (F11) MANE Select NP_000119.1:p.Thr541Pro