Canonical Allele Identifier: CA442639046

Gene: F11

Linked Data

• ClinVar Variation Id: 1145939
• ClinVar RCV Id: RCV001484991
• dbSNP Id: rs2126773119
• MyVariant Identifiers: chr4:g.187205334C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284180C>T , CM000666.2:g.186284180C>T	GRCh38
NC_000004.11:g.187205334C>T , CM000666.1:g.187205334C>T	GRCh37
NC_000004.10:g.187442328C>T	NCBI36
NG_008051.1:g.23217C>T , LRG_583:g.23217C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1224C>T MANE Select	ENSP00000384957.2:p.Thr408=
ENST00000264692.8:c.1062C>T	ENSP00000264692.5:p.Thr354=
ENST00000403665.6:c.1224C>T	ENSP00000384957.2:p.Thr408=
NM_000128.3:c.1224C>T , LRG_583t1:c.1224C>T	NP_000119.1:p.Thr408=
XM_005262821.2:c.1227C>T	XP_005262878.1:p.Thr409=
XM_005262822.2:c.1227C>T	XP_005262879.1:p.Thr409=
XM_005262823.2:c.957C>T	XP_005262880.1:p.Thr319=
XM_005262824.1:c.1227C>T	XP_005262881.1:p.Thr409=
XM_006714137.1:c.1179C>T	XP_006714200.1:p.Thr393=
XR_938706.1:n.1632C>T
XR_938707.1:n.1632C>T
XM_005262821.4:c.1227C>T	XP_005262878.1:p.Thr409=
XM_005262822.4:c.1227C>T	XP_005262879.1:p.Thr409=
XM_005262823.4:c.957C>T	XP_005262880.1:p.Thr319=
XM_006714137.3:c.1179C>T	XP_006714200.1:p.Thr393=
XM_017007884.2:c.*2196C>T	XP_016863373.1:n.*2196C>T
XR_001741172.2:n.1698C>T
NM_000128.4:c.1224C>T MANE Select	NP_000119.1:p.Thr408=