Canonical Allele Identifier: CA1519927283
Community Standard Title: NM_000128.4(F11):c.-2+120G>T
Gene: F11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186266415G>T , CM000666.2:g.186266415G>T GRCh38
NC_000004.11:g.187187569G>T , CM000666.1:g.187187569G>T GRCh37
NC_000004.10:g.187424563G>T NCBI36
NG_008051.1:g.5452G>T , LRG_583:g.5452G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000128.4:c.-2+120G>T MANE Select NP_000119.1:n.-2+120G>T
ENST00000403665.7:c.-2+120G>T MANE Select ENSP00000384957.2:n.-2+120G>T
NM_000128.3:c.-2+120G>T , LRG_583t1:c.-2+120G>T NP_000119.1:n.-2+120G>T
NM_001354804.1:c.-2+120G>T NP_001341733.1:n.-2+120G>T
NM_001354804.2:c.-2+120G>T NP_001341733.1:n.-2+120G>T
ENST00000264692.8:c.-2+120G>T ENSP00000264692.5:n.-2+120G>T
ENST00000403665.6:c.-2+120G>T ENSP00000384957.2:n.-2+120G>T
ENST00000492972.6:c.-2+120G>T ENSP00000424479.1:n.-2+120G>T
XM_005262821.2:c.-2+120G>T XP_005262878.1:n.-2+120G>T
XM_005262821.4:c.-2+120G>T XP_005262878.1:n.-2+120G>T
XM_005262822.2:c.-2+120G>T XP_005262879.1:n.-2+120G>T
XM_005262822.4:c.-2+120G>T XP_005262879.1:n.-2+120G>T
XM_005262823.2:c.-2+120G>T XP_005262880.1:n.-2+120G>T
XM_005262823.4:c.-2+120G>T XP_005262880.1:n.-2+120G>T
XM_005262824.1:c.-2+120G>T XP_005262881.1:n.-2+120G>T
XM_006714137.1:c.-2+120G>T XP_006714200.1:n.-2+120G>T
XM_006714137.3:c.-2+120G>T XP_006714200.1:n.-2+120G>T
XM_017007884.2:c.-2+120G>T XP_016863373.1:n.-2+120G>T
XM_017007885.2:c.-2+120G>T XP_016863374.1:n.-2+120G>T
XM_017007886.2:c.-2+120G>T XP_016863375.1:n.-2+120G>T
XR_001741172.2:n.332+120G>T
XR_938706.1:n.351+120G>T
XR_938707.1:n.351+120G>T