Canonical Allele Identifier: CA358942244
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577222
dbSNP Id: rs753909969

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284244G>T , CM000666.2:g.186284244G>T GRCh38
NC_000004.11:g.187205398G>T , CM000666.1:g.187205398G>T GRCh37
NC_000004.10:g.187442392G>T NCBI36
NG_008051.1:g.23281G>T , LRG_583:g.23281G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000403665.7:c.1288G>T MANE Select ENSP00000384957.2:p.Ala430Ser
ENST00000264692.8:c.1126G>T ENSP00000264692.5:p.Ala376Ser
ENST00000403665.6:c.1288G>T ENSP00000384957.2:p.Ala430Ser
NM_000128.3:c.1288G>T , LRG_583t1:c.1288G>T NP_000119.1:p.Ala430Ser
XM_005262821.2:c.1291G>T XP_005262878.1:p.Ala431Ser
XM_005262822.2:c.1291G>T XP_005262879.1:p.Ala431Ser
XM_005262823.2:c.1021G>T XP_005262880.1:p.Ala341Ser
XM_005262824.1:c.1291G>T XP_005262881.1:p.Ala431Ser
XM_006714137.1:c.1243G>T XP_006714200.1:p.Ala415Ser
XR_938706.1:n.1696G>T
XR_938707.1:n.1696G>T
XM_005262821.4:c.1291G>T XP_005262878.1:p.Ala431Ser
XM_005262822.4:c.1291G>T XP_005262879.1:p.Ala431Ser
XM_005262823.4:c.1021G>T XP_005262880.1:p.Ala341Ser
XM_006714137.3:c.1243G>T XP_006714200.1:p.Ala415Ser
XR_001741172.2:n.1762G>T
NM_000128.4:c.1288G>T MANE Select NP_000119.1:p.Ala430Ser