Canonical Allele Identifier: CA219144

Gene: F11

Linked Data

• ClinVar Variation Id: 68195
• ClinVar RCV Id: RCV000059027 ; RCV000852186
• dbSNP Id: rs281875245
• MyVariant Identifiers: chr4:g.187197453G>T (hg19) ; chr4:g.186276299G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186276299G>T , CM000666.2:g.186276299G>T	GRCh38
NC_000004.11:g.187197453G>T , CM000666.1:g.187197453G>T	GRCh37
NC_000004.10:g.187434447G>T	NCBI36
NG_008051.1:g.15336G>T , LRG_583:g.15336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.664G>T MANE Select	ENSP00000384957.2:p.Asp222Tyr
ENST00000264692.8:c.502G>T	ENSP00000264692.5:p.Asp168Tyr
ENST00000403665.6:c.664G>T	ENSP00000384957.2:p.Asp222Tyr
ENST00000452239.1:c.111G>T
NM_000128.3:c.664G>T , LRG_583t1:c.664G>T	NP_000119.1:p.Asp222Tyr
XM_005262821.2:c.664G>T	XP_005262878.1:p.Asp222Tyr
XM_005262822.2:c.664G>T	XP_005262879.1:p.Asp222Tyr
XM_005262823.2:c.485+2024G>T	XP_005262880.1:n.485+2024G>T
XM_005262824.1:c.664G>T	XP_005262881.1:p.Asp222Tyr
XM_006714137.1:c.664G>T	XP_006714200.1:p.Asp222Tyr
XR_938706.1:n.1016G>T
XR_938707.1:n.1016G>T
XM_005262821.4:c.664G>T	XP_005262878.1:p.Asp222Tyr
XM_005262822.4:c.664G>T	XP_005262879.1:p.Asp222Tyr
XM_005262823.4:c.485+2024G>T	XP_005262880.1:n.485+2024G>T
XM_006714137.3:c.664G>T	XP_006714200.1:p.Asp222Tyr
XM_017007884.2:c.664G>T	XP_016863373.1:p.Asp222Tyr
XM_017007885.2:c.664G>T	XP_016863374.1:p.Asp222Tyr
XM_017007886.2:c.664G>T	XP_016863375.1:p.Asp222Tyr
XR_001741172.2:n.997G>T
NM_000128.4:c.664G>T MANE Select	NP_000119.1:p.Asp222Tyr