Canonical Allele Identifier: CA219132

Gene: F11 F11-AS1

Linked Data

• ClinVar Variation Id: 68189
• ClinVar RCV Id: RCV000059021 ; RCV001027677
• dbSNP Id: rs281875255
• COSMIC: COSM225553
• MyVariant Identifiers: chr4:g.187209712T>C (hg19) ; chr4:g.186288558T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186288558T>C , CM000666.2:g.186288558T>C	GRCh38
NC_000004.11:g.187209712T>C , CM000666.1:g.187209712T>C	GRCh37
NC_000004.10:g.187446706T>C	NCBI36
NG_008051.1:g.27595T>C , LRG_583:g.27595T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1822T>C (F11) MANE Select	ENSP00000384957.2:p.Tyr608His
ENST00000264691.4:c.422T>C (F11)
ENST00000264692.8:c.1660T>C (F11)	ENSP00000264692.5:p.Tyr554His
ENST00000403665.6:c.1822T>C (F11)	ENSP00000384957.2:p.Tyr608His
ENST00000503841.1:n.341T>C (F11)
NM_000128.3:c.1822T>C , LRG_583t1:c.1822T>C (F11)	NP_000119.1:p.Tyr608His
NR_033900.1:n.936A>G (F11-AS1)
XM_005262821.2:c.1825T>C (F11)	XP_005262878.1:p.Tyr609His
XM_005262822.2:c.1729T>C (F11)	XP_005262879.1:p.Tyr577His
XM_005262823.2:c.1555T>C (F11)	XP_005262880.1:p.Tyr519His
XM_006714137.1:c.1777T>C (F11)	XP_006714200.1:p.Tyr593His
XM_005262821.4:c.1825T>C (F11)	XP_005262878.1:p.Tyr609His
XM_005262822.4:c.1729T>C (F11)	XP_005262879.1:p.Tyr577His
XM_005262823.4:c.1555T>C (F11)	XP_005262880.1:p.Tyr519His
XM_006714137.3:c.1777T>C (F11)	XP_006714200.1:p.Tyr593His
NM_000128.4:c.1822T>C (F11) MANE Select	NP_000119.1:p.Tyr608His