Canonical Allele Identifier: CA358945545

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186287731A>C , CM000666.2:g.186287731A>C GRCh38
NC_000004.11:g.187208885A>C , CM000666.1:g.187208885A>C GRCh37
NC_000004.10:g.187445879A>C NCBI36
NG_008051.1:g.26768A>C , LRG_583:g.26768A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1624A>C (F11) MANE Select ENSP00000384957.2:p.Asn542His
ENST00000264691.4:c.224A>C (F11)
ENST00000264692.8:c.1462A>C (F11) ENSP00000264692.5:p.Asn488His
ENST00000403665.6:c.1624A>C (F11) ENSP00000384957.2:p.Asn542His
ENST00000503841.1:n.143A>C (F11)
NM_000128.3:c.1624A>C , LRG_583t1:c.1624A>C (F11) NP_000119.1:p.Asn542His
NR_033900.1:n.1066+697T>G (F11-AS1)
XM_005262821.2:c.1627A>C (F11) XP_005262878.1:p.Asn543His
XM_005262822.2:c.1531A>C (F11) XP_005262879.1:p.Asn511His
XM_005262823.2:c.1357A>C (F11) XP_005262880.1:p.Asn453His
XM_006714137.1:c.1579A>C (F11) XP_006714200.1:p.Asn527His
XR_938707.1:n.1936A>C (F11)
XM_005262821.4:c.1627A>C (F11) XP_005262878.1:p.Asn543His
XM_005262822.4:c.1531A>C (F11) XP_005262879.1:p.Asn511His
XM_005262823.4:c.1357A>C (F11) XP_005262880.1:p.Asn453His
XM_006714137.3:c.1579A>C (F11) XP_006714200.1:p.Asn527His
NM_000128.4:c.1624A>C (F11) MANE Select NP_000119.1:p.Asn542His