Canonical Allele Identifier: CA358945481

Linked Data

dbSNP Id: rs769477902

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287699C>A , CM000666.2:g.186287699C>A GRCh38
NC_000004.11:g.187208853C>A , CM000666.1:g.187208853C>A GRCh37
NC_000004.10:g.187445847C>A NCBI36
NG_008051.1:g.26736C>A , LRG_583:g.26736C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1592C>A (F11) MANE Select ENSP00000384957.2:p.Thr531Asn
ENST00000264691.4:c.192C>A (F11)
ENST00000264692.8:c.1430C>A (F11) ENSP00000264692.5:p.Thr477Asn
ENST00000403665.6:c.1592C>A (F11) ENSP00000384957.2:p.Thr531Asn
ENST00000503841.1:n.111C>A (F11)
NM_000128.3:c.1592C>A , LRG_583t1:c.1592C>A (F11) NP_000119.1:p.Thr531Asn
NR_033900.1:n.1066+729G>T (F11-AS1)
XM_005262821.2:c.1595C>A (F11) XP_005262878.1:p.Thr532Asn
XM_005262822.2:c.1499C>A (F11) XP_005262879.1:p.Thr500Asn
XM_005262823.2:c.1325C>A (F11) XP_005262880.1:p.Thr442Asn
XM_006714137.1:c.1547C>A (F11) XP_006714200.1:p.Thr516Asn
XR_938706.1:n.2000C>A (F11)
XR_938707.1:n.1904C>A (F11)
XM_005262821.4:c.1595C>A (F11) XP_005262878.1:p.Thr532Asn
XM_005262822.4:c.1499C>A (F11) XP_005262879.1:p.Thr500Asn
XM_005262823.4:c.1325C>A (F11) XP_005262880.1:p.Thr442Asn
XM_006714137.3:c.1547C>A (F11) XP_006714200.1:p.Thr516Asn
NM_000128.4:c.1592C>A (F11) MANE Select NP_000119.1:p.Thr531Asn