Canonical Allele Identifier: CA358946110

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288525G>C , CM000666.2:g.186288525G>C GRCh38
NC_000004.11:g.187209679G>C , CM000666.1:g.187209679G>C GRCh37
NC_000004.10:g.187446673G>C NCBI36
NG_008051.1:g.27562G>C , LRG_583:g.27562G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1789G>C (F11) MANE Select ENSP00000384957.2:p.Glu597Gln
ENST00000264691.4:c.389G>C (F11)
ENST00000264692.8:c.1627G>C (F11) ENSP00000264692.5:p.Glu543Gln
ENST00000403665.6:c.1789G>C (F11) ENSP00000384957.2:p.Glu597Gln
ENST00000503841.1:n.308G>C (F11)
NM_000128.3:c.1789G>C , LRG_583t1:c.1789G>C (F11) NP_000119.1:p.Glu597Gln
NR_033900.1:n.969C>G (F11-AS1)
XM_005262821.2:c.1792G>C (F11) XP_005262878.1:p.Glu598Gln
XM_005262822.2:c.1696G>C (F11) XP_005262879.1:p.Glu566Gln
XM_005262823.2:c.1522G>C (F11) XP_005262880.1:p.Glu508Gln
XM_006714137.1:c.1744G>C (F11) XP_006714200.1:p.Glu582Gln
XM_005262821.4:c.1792G>C (F11) XP_005262878.1:p.Glu598Gln
XM_005262822.4:c.1696G>C (F11) XP_005262879.1:p.Glu566Gln
XM_005262823.4:c.1522G>C (F11) XP_005262880.1:p.Glu508Gln
XM_006714137.3:c.1744G>C (F11) XP_006714200.1:p.Glu582Gln
NM_000128.4:c.1789G>C (F11) MANE Select NP_000119.1:p.Glu597Gln