Canonical Allele Identifier: CA358941835

Gene: F11

Linked Data

• ClinVar Variation Id: 992721
• ClinVar RCV Id: RCV001281447 ; RCV003479308 ; RCV003727976
• dbSNP Id: rs1741002305
• gnomAD v4: 4-186284160-C-T
• MyVariant Identifiers: chr4:g.187205314C>T (hg19) ; chr4:g.186284160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284160C>T , CM000666.2:g.186284160C>T	GRCh38
NC_000004.11:g.187205314C>T , CM000666.1:g.187205314C>T	GRCh37
NC_000004.10:g.187442308C>T	NCBI36
NG_008051.1:g.23197C>T , LRG_583:g.23197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1204C>T MANE Select	ENSP00000384957.2:p.Gln402Ter
ENST00000264692.8:c.1042C>T	ENSP00000264692.5:p.Gln348Ter
ENST00000403665.6:c.1204C>T	ENSP00000384957.2:p.Gln402Ter
NM_000128.3:c.1204C>T , LRG_583t1:c.1204C>T	NP_000119.1:p.Gln402Ter
XM_005262821.2:c.1207C>T	XP_005262878.1:p.Gln403Ter
XM_005262822.2:c.1207C>T	XP_005262879.1:p.Gln403Ter
XM_005262823.2:c.937C>T	XP_005262880.1:p.Gln313Ter
XM_005262824.1:c.1207C>T	XP_005262881.1:p.Gln403Ter
XM_006714137.1:c.1159C>T	XP_006714200.1:p.Gln387Ter
XR_938706.1:n.1612C>T
XR_938707.1:n.1612C>T
XM_005262821.4:c.1207C>T	XP_005262878.1:p.Gln403Ter
XM_005262822.4:c.1207C>T	XP_005262879.1:p.Gln403Ter
XM_005262823.4:c.937C>T	XP_005262880.1:p.Gln313Ter
XM_006714137.3:c.1159C>T	XP_006714200.1:p.Gln387Ter
XM_017007884.2:c.*2176C>T	XP_016863373.1:n.*2176C>T
XM_017007885.2:c.*72C>T	XP_016863374.1:n.*72C>T
XR_001741172.2:n.1678C>T
NM_000128.4:c.1204C>T MANE Select	NP_000119.1:p.Gln402Ter