Canonical Allele Identifier: CA112105885

Linked Data

dbSNP Id: rs113918000

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288199A>C , CM000666.2:g.186288199A>C GRCh38
NC_000004.11:g.187209353A>C , CM000666.1:g.187209353A>C GRCh37
NC_000004.10:g.187446347A>C NCBI36
NG_008051.1:g.27236A>C , LRG_583:g.27236A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1717-254A>C (F11) MANE Select ENSP00000384957.2:n.1717-254A>C
ENST00000264691.4:c.317-254A>C (F11)
ENST00000264692.8:c.1555-254A>C (F11) ENSP00000264692.5:n.1555-254A>C
ENST00000403665.6:c.1717-254A>C (F11) ENSP00000384957.2:n.1717-254A>C
ENST00000503841.1:n.236-254A>C (F11)
NM_000128.3:c.1717-254A>C , LRG_583t1:c.1717-254A>C (F11) NP_000119.1:n.1717-254A>C
NR_033900.1:n.1066+229T>G (F11-AS1)
XM_005262821.2:c.1720-254A>C (F11) XP_005262878.1:n.1720-254A>C
XM_005262822.2:c.1624-254A>C (F11) XP_005262879.1:n.1624-254A>C
XM_005262823.2:c.1450-254A>C (F11) XP_005262880.1:n.1450-254A>C
XM_006714137.1:c.1672-254A>C (F11) XP_006714200.1:n.1672-254A>C
XM_005262821.4:c.1720-254A>C (F11) XP_005262878.1:n.1720-254A>C
XM_005262822.4:c.1624-254A>C (F11) XP_005262879.1:n.1624-254A>C
XM_005262823.4:c.1450-254A>C (F11) XP_005262880.1:n.1450-254A>C
XM_006714137.3:c.1672-254A>C (F11) XP_006714200.1:n.1672-254A>C
NM_000128.4:c.1717-254A>C (F11) MANE Select NP_000119.1:n.1717-254A>C