Canonical Allele Identifier: CA358943869

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186286415A>C , CM000666.2:g.186286415A>C GRCh38
NC_000004.11:g.187207569A>C , CM000666.1:g.187207569A>C GRCh37
NC_000004.10:g.187444563A>C NCBI36
NG_008051.1:g.25452A>C , LRG_583:g.25452A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1481A>C (F11) MANE Select ENSP00000384957.2:p.Asp494Ala
ENST00000264691.4:c.176+602A>C (F11)
ENST00000264692.8:c.1319A>C (F11) ENSP00000264692.5:p.Asp440Ala
ENST00000403665.6:c.1481A>C (F11) ENSP00000384957.2:p.Asp494Ala
NM_000128.3:c.1481A>C , LRG_583t1:c.1481A>C (F11) NP_000119.1:p.Asp494Ala
NR_033900.1:n.1067-149T>G (F11-AS1)
XM_005262821.2:c.1484A>C (F11) XP_005262878.1:p.Asp495Ala
XM_005262822.2:c.1483+602A>C (F11) XP_005262879.1:n.1483+602A>C
XM_005262823.2:c.1214A>C (F11) XP_005262880.1:p.Asp405Ala
XM_005262824.1:c.1484-131A>C (F11) XP_005262881.1:n.1484-131A>C
XM_006714137.1:c.1436A>C (F11) XP_006714200.1:p.Asp479Ala
XR_938706.1:n.1889A>C (F11)
XR_938707.1:n.1888+602A>C (F11)
XM_005262821.4:c.1484A>C (F11) XP_005262878.1:p.Asp495Ala
XM_005262822.4:c.1483+602A>C (F11) XP_005262879.1:n.1483+602A>C
XM_005262823.4:c.1214A>C (F11) XP_005262880.1:p.Asp405Ala
XM_006714137.3:c.1436A>C (F11) XP_006714200.1:p.Asp479Ala
XR_001741172.2:n.1955A>C (F11)
NM_000128.4:c.1481A>C (F11) MANE Select NP_000119.1:p.Asp494Ala