Canonical Allele Identifier: CA2672903981

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288281C>A , CM000666.2:g.186288281C>A GRCh38
NC_000004.11:g.187209435C>A , CM000666.1:g.187209435C>A GRCh37
NC_000004.10:g.187446429C>A NCBI36
NG_008051.1:g.27318C>A , LRG_583:g.27318C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1717-172C>A (F11) MANE Select ENSP00000384957.2:n.1717-172C>A
ENST00000264691.4:c.317-172C>A (F11)
ENST00000264692.8:c.1555-172C>A (F11) ENSP00000264692.5:n.1555-172C>A
ENST00000403665.6:c.1717-172C>A (F11) ENSP00000384957.2:n.1717-172C>A
ENST00000503841.1:n.236-172C>A (F11)
NM_000128.3:c.1717-172C>A , LRG_583t1:c.1717-172C>A (F11) NP_000119.1:n.1717-172C>A
NR_033900.1:n.1066+147G>T (F11-AS1)
XM_005262821.2:c.1720-172C>A (F11) XP_005262878.1:n.1720-172C>A
XM_005262822.2:c.1624-172C>A (F11) XP_005262879.1:n.1624-172C>A
XM_005262823.2:c.1450-172C>A (F11) XP_005262880.1:n.1450-172C>A
XM_006714137.1:c.1672-172C>A (F11) XP_006714200.1:n.1672-172C>A
XM_005262821.4:c.1720-172C>A (F11) XP_005262878.1:n.1720-172C>A
XM_005262822.4:c.1624-172C>A (F11) XP_005262879.1:n.1624-172C>A
XM_005262823.4:c.1450-172C>A (F11) XP_005262880.1:n.1450-172C>A
XM_006714137.3:c.1672-172C>A (F11) XP_006714200.1:n.1672-172C>A
NM_000128.4:c.1717-172C>A (F11) MANE Select NP_000119.1:n.1717-172C>A