Canonical Allele Identifier: CA358943652

Gene: F11

Linked Data

• dbSNP Id: rs1200606822
• MyVariant Identifiers: chr4:g.187206939G>T (hg19) ; chr4:g.186285785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285785G>T , CM000666.2:g.186285785G>T	GRCh38
NC_000004.11:g.187206939G>T , CM000666.1:g.187206939G>T	GRCh37
NC_000004.10:g.187443933G>T	NCBI36
NG_008051.1:g.24822G>T , LRG_583:g.24822G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1452G>T MANE Select	ENSP00000384957.2:p.Leu484Phe
ENST00000264691.4:c.148G>T
ENST00000264692.8:c.1290G>T	ENSP00000264692.5:p.Leu430Phe
ENST00000403665.6:c.1452G>T	ENSP00000384957.2:p.Leu484Phe
NM_000128.3:c.1452G>T , LRG_583t1:c.1452G>T	NP_000119.1:p.Leu484Phe
XM_005262821.2:c.1455G>T	XP_005262878.1:p.Leu485Phe
XM_005262822.2:c.1455G>T	XP_005262879.1:p.Leu485Phe
XM_005262823.2:c.1185G>T	XP_005262880.1:p.Leu395Phe
XM_005262824.1:c.1455G>T	XP_005262881.1:p.Leu485Phe
XM_006714137.1:c.1407G>T	XP_006714200.1:p.Leu469Phe
XR_938706.1:n.1860G>T
XR_938707.1:n.1860G>T
XM_005262821.4:c.1455G>T	XP_005262878.1:p.Leu485Phe
XM_005262822.4:c.1455G>T	XP_005262879.1:p.Leu485Phe
XM_005262823.4:c.1185G>T	XP_005262880.1:p.Leu395Phe
XM_006714137.3:c.1407G>T	XP_006714200.1:p.Leu469Phe
XR_001741172.2:n.1926G>T
NM_000128.4:c.1452G>T MANE Select	NP_000119.1:p.Leu484Phe