Canonical Allele Identifier: CA358959347

Gene: F11

Linked Data

• ClinVar Variation Id: 1703829
• ClinVar RCV Id: RCV002280988
• dbSNP Id: rs2126740457
• MyVariant Identifiers: chr4:g.187197508C>T (hg19) ; chr4:g.186276354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276354C>T , CM000666.2:g.186276354C>T	GRCh38
NC_000004.11:g.187197508C>T , CM000666.1:g.187197508C>T	GRCh37
NC_000004.10:g.187434502C>T	NCBI36
NG_008051.1:g.15391C>T , LRG_583:g.15391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.719C>T MANE Select	ENSP00000384957.2:p.Thr240Ile
ENST00000264692.8:c.557C>T	ENSP00000264692.5:p.Thr186Ile
ENST00000403665.6:c.719C>T	ENSP00000384957.2:p.Thr240Ile
ENST00000452239.1:c.166C>T
NM_000128.3:c.719C>T , LRG_583t1:c.719C>T	NP_000119.1:p.Thr240Ile
XM_005262821.2:c.719C>T	XP_005262878.1:p.Thr240Ile
XM_005262822.2:c.719C>T	XP_005262879.1:p.Thr240Ile
XM_005262823.2:c.485+2079C>T	XP_005262880.1:n.485+2079C>T
XM_005262824.1:c.719C>T	XP_005262881.1:p.Thr240Ile
XM_006714137.1:c.719C>T	XP_006714200.1:p.Thr240Ile
XR_938706.1:n.1071C>T
XR_938707.1:n.1071C>T
XM_005262821.4:c.719C>T	XP_005262878.1:p.Thr240Ile
XM_005262822.4:c.719C>T	XP_005262879.1:p.Thr240Ile
XM_005262823.4:c.485+2079C>T	XP_005262880.1:n.485+2079C>T
XM_006714137.3:c.719C>T	XP_006714200.1:p.Thr240Ile
XM_017007884.2:c.719C>T	XP_016863373.1:p.Thr240Ile
XM_017007885.2:c.719C>T	XP_016863374.1:p.Thr240Ile
XM_017007886.2:c.719C>T	XP_016863375.1:p.Thr240Ile
XR_001741172.2:n.1052C>T
NM_000128.4:c.719C>T MANE Select	NP_000119.1:p.Thr240Ile