Canonical Allele Identifier: CA358946075

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288517G>A , CM000666.2:g.186288517G>A GRCh38
NC_000004.11:g.187209671G>A , CM000666.1:g.187209671G>A GRCh37
NC_000004.10:g.187446665G>A NCBI36
NG_008051.1:g.27554G>A , LRG_583:g.27554G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1781G>A (F11) MANE Select ENSP00000384957.2:p.Ser594Asn
ENST00000264691.4:c.381G>A (F11)
ENST00000264692.8:c.1619G>A (F11) ENSP00000264692.5:p.Ser540Asn
ENST00000403665.6:c.1781G>A (F11) ENSP00000384957.2:p.Ser594Asn
ENST00000503841.1:n.300G>A (F11)
NM_000128.3:c.1781G>A , LRG_583t1:c.1781G>A (F11) NP_000119.1:p.Ser594Asn
NR_033900.1:n.977C>T (F11-AS1)
XM_005262821.2:c.1784G>A (F11) XP_005262878.1:p.Ser595Asn
XM_005262822.2:c.1688G>A (F11) XP_005262879.1:p.Ser563Asn
XM_005262823.2:c.1514G>A (F11) XP_005262880.1:p.Ser505Asn
XM_006714137.1:c.1736G>A (F11) XP_006714200.1:p.Ser579Asn
XM_005262821.4:c.1784G>A (F11) XP_005262878.1:p.Ser595Asn
XM_005262822.4:c.1688G>A (F11) XP_005262879.1:p.Ser563Asn
XM_005262823.4:c.1514G>A (F11) XP_005262880.1:p.Ser505Asn
XM_006714137.3:c.1736G>A (F11) XP_006714200.1:p.Ser579Asn
NM_000128.4:c.1781G>A (F11) MANE Select NP_000119.1:p.Ser594Asn