Canonical Allele Identifier: CA358945502

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287709A>C , CM000666.2:g.186287709A>C GRCh38
NC_000004.11:g.187208863A>C , CM000666.1:g.187208863A>C GRCh37
NC_000004.10:g.187445857A>C NCBI36
NG_008051.1:g.26746A>C , LRG_583:g.26746A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1602A>C (F11) MANE Select ENSP00000384957.2:p.Lys534Asn
ENST00000264691.4:c.202A>C (F11)
ENST00000264692.8:c.1440A>C (F11) ENSP00000264692.5:p.Lys480Asn
ENST00000403665.6:c.1602A>C (F11) ENSP00000384957.2:p.Lys534Asn
ENST00000503841.1:n.121A>C (F11)
NM_000128.3:c.1602A>C , LRG_583t1:c.1602A>C (F11) NP_000119.1:p.Lys534Asn
NR_033900.1:n.1066+719T>G (F11-AS1)
XM_005262821.2:c.1605A>C (F11) XP_005262878.1:p.Lys535Asn
XM_005262822.2:c.1509A>C (F11) XP_005262879.1:p.Lys503Asn
XM_005262823.2:c.1335A>C (F11) XP_005262880.1:p.Lys445Asn
XM_006714137.1:c.1557A>C (F11) XP_006714200.1:p.Lys519Asn
XR_938707.1:n.1914A>C (F11)
XM_005262821.4:c.1605A>C (F11) XP_005262878.1:p.Lys535Asn
XM_005262822.4:c.1509A>C (F11) XP_005262879.1:p.Lys503Asn
XM_005262823.4:c.1335A>C (F11) XP_005262880.1:p.Lys445Asn
XM_006714137.3:c.1557A>C (F11) XP_006714200.1:p.Lys519Asn
NM_000128.4:c.1602A>C (F11) MANE Select NP_000119.1:p.Lys534Asn