Canonical Allele Identifier: CA358946279

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288583A>C , CM000666.2:g.186288583A>C GRCh38
NC_000004.11:g.187209737A>C , CM000666.1:g.187209737A>C GRCh37
NC_000004.10:g.187446731A>C NCBI36
NG_008051.1:g.27620A>C , LRG_583:g.27620A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1847A>C (F11) MANE Select ENSP00000384957.2:p.Asp616Ala
ENST00000264691.4:c.447A>C (F11)
ENST00000264692.8:c.1685A>C (F11) ENSP00000264692.5:p.Asp562Ala
ENST00000403665.6:c.1847A>C (F11) ENSP00000384957.2:p.Asp616Ala
ENST00000503841.1:n.366A>C (F11)
NM_000128.3:c.1847A>C , LRG_583t1:c.1847A>C (F11) NP_000119.1:p.Asp616Ala
NR_033900.1:n.911T>G (F11-AS1)
XM_005262821.2:c.1850A>C (F11) XP_005262878.1:p.Asp617Ala
XM_005262822.2:c.1754A>C (F11) XP_005262879.1:p.Asp585Ala
XM_005262823.2:c.1580A>C (F11) XP_005262880.1:p.Asp527Ala
XM_006714137.1:c.1802A>C (F11) XP_006714200.1:p.Asp601Ala
XM_005262821.4:c.1850A>C (F11) XP_005262878.1:p.Asp617Ala
XM_005262822.4:c.1754A>C (F11) XP_005262879.1:p.Asp585Ala
XM_005262823.4:c.1580A>C (F11) XP_005262880.1:p.Asp527Ala
XM_006714137.3:c.1802A>C (F11) XP_006714200.1:p.Asp601Ala
NM_000128.4:c.1847A>C (F11) MANE Select NP_000119.1:p.Asp616Ala