Canonical Allele Identifier: CA2672904016

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186288349G>T , CM000666.2:g.186288349G>T GRCh38
NC_000004.11:g.187209503G>T , CM000666.1:g.187209503G>T GRCh37
NC_000004.10:g.187446497G>T NCBI36
NG_008051.1:g.27386G>T , LRG_583:g.27386G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1717-104G>T (F11) MANE Select ENSP00000384957.2:n.1717-104G>T
ENST00000264691.4:c.317-104G>T (F11)
ENST00000264692.8:c.1555-104G>T (F11) ENSP00000264692.5:n.1555-104G>T
ENST00000403665.6:c.1717-104G>T (F11) ENSP00000384957.2:n.1717-104G>T
ENST00000503841.1:n.236-104G>T (F11)
NM_000128.3:c.1717-104G>T , LRG_583t1:c.1717-104G>T (F11) NP_000119.1:n.1717-104G>T
NR_033900.1:n.1066+79C>A (F11-AS1)
XM_005262821.2:c.1720-104G>T (F11) XP_005262878.1:n.1720-104G>T
XM_005262822.2:c.1624-104G>T (F11) XP_005262879.1:n.1624-104G>T
XM_005262823.2:c.1450-104G>T (F11) XP_005262880.1:n.1450-104G>T
XM_006714137.1:c.1672-104G>T (F11) XP_006714200.1:n.1672-104G>T
XM_005262821.4:c.1720-104G>T (F11) XP_005262878.1:n.1720-104G>T
XM_005262822.4:c.1624-104G>T (F11) XP_005262879.1:n.1624-104G>T
XM_005262823.4:c.1450-104G>T (F11) XP_005262880.1:n.1450-104G>T
XM_006714137.3:c.1672-104G>T (F11) XP_006714200.1:n.1672-104G>T
NM_000128.4:c.1717-104G>T (F11) MANE Select NP_000119.1:n.1717-104G>T