Canonical Allele Identifier: CA3163911
Community Standard Title: NM_000128.4(F11):c.1178C>T (p.Ala393Val)
Gene: F11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284134C>T , CM000666.2:g.186284134C>T GRCh38
NC_000004.11:g.187205288C>T , CM000666.1:g.187205288C>T GRCh37
NC_000004.10:g.187442282C>T NCBI36
NG_008051.1:g.23171C>T , LRG_583:g.23171C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000128.4:c.1178C>T MANE Select NP_000119.1:p.Ala393Val
ENST00000403665.7:c.1178C>T MANE Select ENSP00000384957.2:p.Ala393Val
NM_000128.3:c.1178C>T , LRG_583t1:c.1178C>T NP_000119.1:p.Ala393Val
ENST00000264692.8:c.1016C>T ENSP00000264692.5:p.Ala339Val
ENST00000403665.6:c.1178C>T ENSP00000384957.2:p.Ala393Val
XM_005262821.2:c.1181C>T XP_005262878.1:p.Ala394Val
XM_005262821.4:c.1181C>T XP_005262878.1:p.Ala394Val
XM_005262822.2:c.1181C>T XP_005262879.1:p.Ala394Val
XM_005262822.4:c.1181C>T XP_005262879.1:p.Ala394Val
XM_005262823.2:c.911C>T XP_005262880.1:p.Ala304Val
XM_005262823.4:c.911C>T XP_005262880.1:p.Ala304Val
XM_005262824.1:c.1181C>T XP_005262881.1:p.Ala394Val
XM_006714137.1:c.1133C>T XP_006714200.1:p.Ala378Val
XM_006714137.3:c.1133C>T XP_006714200.1:p.Ala378Val
XM_017007884.2:c.*2150C>T XP_016863373.1:n.*2150C>T
XM_017007885.2:c.*46C>T XP_016863374.1:n.*46C>T
XR_001741172.2:n.1652C>T
XR_938706.1:n.1586C>T
XR_938707.1:n.1586C>T