Canonical Allele Identifier: CA442639018

Gene: F11

Linked Data

• ClinVar Variation Id: 2420590
• ClinVar RCV Id: RCV003121755
• MyVariant Identifiers: chr4:g.187205322C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284168C>T , CM000666.2:g.186284168C>T	GRCh38
NC_000004.11:g.187205322C>T , CM000666.1:g.187205322C>T	GRCh37
NC_000004.10:g.187442316C>T	NCBI36
NG_008051.1:g.23205C>T , LRG_583:g.23205C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1212C>T MANE Select	ENSP00000384957.2:p.Thr404=
ENST00000264692.8:c.1050C>T	ENSP00000264692.5:p.Thr350=
ENST00000403665.6:c.1212C>T	ENSP00000384957.2:p.Thr404=
NM_000128.3:c.1212C>T , LRG_583t1:c.1212C>T	NP_000119.1:p.Thr404=
XM_005262821.2:c.1215C>T	XP_005262878.1:p.Thr405=
XM_005262822.2:c.1215C>T	XP_005262879.1:p.Thr405=
XM_005262823.2:c.945C>T	XP_005262880.1:p.Thr315=
XM_005262824.1:c.1215C>T	XP_005262881.1:p.Thr405=
XM_006714137.1:c.1167C>T	XP_006714200.1:p.Thr389=
XR_938706.1:n.1620C>T
XR_938707.1:n.1620C>T
XM_005262821.4:c.1215C>T	XP_005262878.1:p.Thr405=
XM_005262822.4:c.1215C>T	XP_005262879.1:p.Thr405=
XM_005262823.4:c.945C>T	XP_005262880.1:p.Thr315=
XM_006714137.3:c.1167C>T	XP_006714200.1:p.Thr389=
XM_017007884.2:c.*2184C>T	XP_016863373.1:n.*2184C>T
XR_001741172.2:n.1686C>T
NM_000128.4:c.1212C>T MANE Select	NP_000119.1:p.Thr404=