Canonical Allele Identifier: CA3164126

Gene: F11 F11-AS1

Linked Data

• dbSNP Id: rs750086712
• ExAC: 4:187209688 G / A
• gnomAD v2: 4-187209688-G-A
• gnomAD v4: 4-186288534-G-A
• MyVariant Identifiers: chr4:g.187209688G>A (hg19) ; chr4:g.186288534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186288534G>A , CM000666.2:g.186288534G>A	GRCh38
NC_000004.11:g.187209688G>A , CM000666.1:g.187209688G>A	GRCh37
NC_000004.10:g.187446682G>A	NCBI36
NG_008051.1:g.27571G>A , LRG_583:g.27571G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1798G>A (F11) MANE Select	ENSP00000384957.2:p.Ala600Thr
ENST00000264691.4:c.398G>A (F11)
ENST00000264692.8:c.1636G>A (F11)	ENSP00000264692.5:p.Ala546Thr
ENST00000403665.6:c.1798G>A (F11)	ENSP00000384957.2:p.Ala600Thr
ENST00000503841.1:n.317G>A (F11)
NM_000128.3:c.1798G>A , LRG_583t1:c.1798G>A (F11)	NP_000119.1:p.Ala600Thr
NR_033900.1:n.960C>T (F11-AS1)
XM_005262821.2:c.1801G>A (F11)	XP_005262878.1:p.Ala601Thr
XM_005262822.2:c.1705G>A (F11)	XP_005262879.1:p.Ala569Thr
XM_005262823.2:c.1531G>A (F11)	XP_005262880.1:p.Ala511Thr
XM_006714137.1:c.1753G>A (F11)	XP_006714200.1:p.Ala585Thr
XM_005262821.4:c.1801G>A (F11)	XP_005262878.1:p.Ala601Thr
XM_005262822.4:c.1705G>A (F11)	XP_005262879.1:p.Ala569Thr
XM_005262823.4:c.1531G>A (F11)	XP_005262880.1:p.Ala511Thr
XM_006714137.3:c.1753G>A (F11)	XP_006714200.1:p.Ala585Thr
NM_000128.4:c.1798G>A (F11) MANE Select	NP_000119.1:p.Ala600Thr