Canonical Allele Identifier: CA3164064

Gene: F11 F11-AS1

Linked Data

• dbSNP Id: rs780062935
• ExAC: 4:187208891 G / C
• MyVariant Identifiers: chr4:g.187208891G>C (hg19) ; chr4:g.186287737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186287737G>C , CM000666.2:g.186287737G>C	GRCh38
NC_000004.11:g.187208891G>C , CM000666.1:g.187208891G>C	GRCh37
NC_000004.10:g.187445885G>C	NCBI36
NG_008051.1:g.26774G>C , LRG_583:g.26774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1630G>C (F11) MANE Select	ENSP00000384957.2:p.Glu544Gln
ENST00000264691.4:c.230G>C (F11)
ENST00000264692.8:c.1468G>C (F11)	ENSP00000264692.5:p.Glu490Gln
ENST00000403665.6:c.1630G>C (F11)	ENSP00000384957.2:p.Glu544Gln
ENST00000503841.1:n.149G>C (F11)
NM_000128.3:c.1630G>C , LRG_583t1:c.1630G>C (F11)	NP_000119.1:p.Glu544Gln
NR_033900.1:n.1066+691C>G (F11-AS1)
XM_005262821.2:c.1633G>C (F11)	XP_005262878.1:p.Glu545Gln
XM_005262822.2:c.1537G>C (F11)	XP_005262879.1:p.Glu513Gln
XM_005262823.2:c.1363G>C (F11)	XP_005262880.1:p.Glu455Gln
XM_006714137.1:c.1585G>C (F11)	XP_006714200.1:p.Glu529Gln
XR_938707.1:n.1942G>C (F11)
XM_005262821.4:c.1633G>C (F11)	XP_005262878.1:p.Glu545Gln
XM_005262822.4:c.1537G>C (F11)	XP_005262879.1:p.Glu513Gln
XM_005262823.4:c.1363G>C (F11)	XP_005262880.1:p.Glu455Gln
XM_006714137.3:c.1585G>C (F11)	XP_006714200.1:p.Glu529Gln
NM_000128.4:c.1630G>C (F11) MANE Select	NP_000119.1:p.Glu544Gln