Canonical Allele Identifier: CA358942171

Gene: F11

Linked Data

• ClinVar Variation Id: 551366
• ClinVar RCV Id: RCV000666407
• dbSNP Id: rs1554083512
• gnomAD v4: 4-186284229-T-A
• MyVariant Identifiers: chr4:g.187205383T>A (hg19) ; chr4:g.186284229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284229T>A , CM000666.2:g.186284229T>A	GRCh38
NC_000004.11:g.187205383T>A , CM000666.1:g.187205383T>A	GRCh37
NC_000004.10:g.187442377T>A	NCBI36
NG_008051.1:g.23266T>A , LRG_583:g.23266T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1273T>A MANE Select	ENSP00000384957.2:p.Trp425Arg
ENST00000264692.8:c.1111T>A	ENSP00000264692.5:p.Trp371Arg
ENST00000403665.6:c.1273T>A	ENSP00000384957.2:p.Trp425Arg
NM_000128.3:c.1273T>A , LRG_583t1:c.1273T>A	NP_000119.1:p.Trp425Arg
XM_005262821.2:c.1276T>A	XP_005262878.1:p.Trp426Arg
XM_005262822.2:c.1276T>A	XP_005262879.1:p.Trp426Arg
XM_005262823.2:c.1006T>A	XP_005262880.1:p.Trp336Arg
XM_005262824.1:c.1276T>A	XP_005262881.1:p.Trp426Arg
XM_006714137.1:c.1228T>A	XP_006714200.1:p.Trp410Arg
XR_938706.1:n.1681T>A
XR_938707.1:n.1681T>A
XM_005262821.4:c.1276T>A	XP_005262878.1:p.Trp426Arg
XM_005262822.4:c.1276T>A	XP_005262879.1:p.Trp426Arg
XM_005262823.4:c.1006T>A	XP_005262880.1:p.Trp336Arg
XM_006714137.3:c.1228T>A	XP_006714200.1:p.Trp410Arg
XR_001741172.2:n.1747T>A
NM_000128.4:c.1273T>A MANE Select	NP_000119.1:p.Trp425Arg