Canonical Allele Identifier: CA112106751
Community Standard Title: NM_000128.4(F11):c.*609C>A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186289223C>A , CM000666.2:g.186289223C>A GRCh38
NC_000004.11:g.187210377C>A , CM000666.1:g.187210377C>A GRCh37
NC_000004.10:g.187447371C>A NCBI36
NG_008051.1:g.28260C>A , LRG_583:g.28260C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000128.4:c.*609C>A (F11) MANE Select NP_000119.1:n.*609C>A
ENST00000403665.7:c.*609C>A (F11) MANE Select ENSP00000384957.2:n.*609C>A
NM_000128.3:c.*609C>A , LRG_583t1:c.*609C>A (F11) NP_000119.1:n.*609C>A
NR_033900.1:n.492-221G>T (F11-AS1)
XM_005262821.2:c.*609C>A (F11) XP_005262878.1:n.*609C>A
XM_005262821.4:c.*609C>A (F11) XP_005262878.1:n.*609C>A
XM_005262822.2:c.*609C>A (F11) XP_005262879.1:n.*609C>A
XM_005262822.4:c.*609C>A (F11) XP_005262879.1:n.*609C>A
XM_005262823.2:c.*609C>A (F11) XP_005262880.1:n.*609C>A
XM_005262823.4:c.*609C>A (F11) XP_005262880.1:n.*609C>A
XM_006714137.1:c.*609C>A (F11) XP_006714200.1:n.*609C>A
XM_006714137.3:c.*609C>A (F11) XP_006714200.1:n.*609C>A