Canonical Allele Identifier: CA112102268

Gene: F11

Linked Data

• dbSNP Id: rs138870893
• gnomAD v3: 4-186284143-G-T
• gnomAD v4: 4-186284143-G-T
• MyVariant Identifiers: chr4:g.187205297G>T (hg19) ; chr4:g.186284143G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284143G>T , CM000666.2:g.186284143G>T	GRCh38
NC_000004.11:g.187205297G>T , CM000666.1:g.187205297G>T	GRCh37
NC_000004.10:g.187442291G>T	NCBI36
NG_008051.1:g.23180G>T , LRG_583:g.23180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1187G>T MANE Select	ENSP00000384957.2:p.Arg396Leu
ENST00000264692.8:c.1025G>T	ENSP00000264692.5:p.Arg342Leu
ENST00000403665.6:c.1187G>T	ENSP00000384957.2:p.Arg396Leu
NM_000128.3:c.1187G>T , LRG_583t1:c.1187G>T	NP_000119.1:p.Arg396Leu
XM_005262821.2:c.1190G>T	XP_005262878.1:p.Arg397Leu
XM_005262822.2:c.1190G>T	XP_005262879.1:p.Arg397Leu
XM_005262823.2:c.920G>T	XP_005262880.1:p.Arg307Leu
XM_005262824.1:c.1190G>T	XP_005262881.1:p.Arg397Leu
XM_006714137.1:c.1142G>T	XP_006714200.1:p.Arg381Leu
XR_938706.1:n.1595G>T
XR_938707.1:n.1595G>T
XM_005262821.4:c.1190G>T	XP_005262878.1:p.Arg397Leu
XM_005262822.4:c.1190G>T	XP_005262879.1:p.Arg397Leu
XM_005262823.4:c.920G>T	XP_005262880.1:p.Arg307Leu
XM_006714137.3:c.1142G>T	XP_006714200.1:p.Arg381Leu
XM_017007884.2:c.*2159G>T	XP_016863373.1:n.*2159G>T
XM_017007885.2:c.*55G>T	XP_016863374.1:n.*55G>T
XR_001741172.2:n.1661G>T
NM_000128.4:c.1187G>T MANE Select	NP_000119.1:p.Arg396Leu