Canonical Allele Identifier: CA3163924

Gene: F11

Linked Data

• ClinVar Variation Id: 903591
• ClinVar RCV Id: RCV001151015 ; RCV003293906
• dbSNP Id: rs369822221
• ExAC: 4:187205329 A / G
• gnomAD v2: 4-187205329-A-G
• gnomAD v3: 4-186284175-A-G
• gnomAD v4: 4-186284175-A-G
• MyVariant Identifiers: chr4:g.187205329A>G (hg19) ; chr4:g.186284175A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284175A>G , CM000666.2:g.186284175A>G	GRCh38
NC_000004.11:g.187205329A>G , CM000666.1:g.187205329A>G	GRCh37
NC_000004.10:g.187442323A>G	NCBI36
NG_008051.1:g.23212A>G , LRG_583:g.23212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1219A>G MANE Select	ENSP00000384957.2:p.Thr407Ala
ENST00000264692.8:c.1057A>G	ENSP00000264692.5:p.Thr353Ala
ENST00000403665.6:c.1219A>G	ENSP00000384957.2:p.Thr407Ala
NM_000128.3:c.1219A>G , LRG_583t1:c.1219A>G	NP_000119.1:p.Thr407Ala
XM_005262821.2:c.1222A>G	XP_005262878.1:p.Thr408Ala
XM_005262822.2:c.1222A>G	XP_005262879.1:p.Thr408Ala
XM_005262823.2:c.952A>G	XP_005262880.1:p.Thr318Ala
XM_005262824.1:c.1222A>G	XP_005262881.1:p.Thr408Ala
XM_006714137.1:c.1174A>G	XP_006714200.1:p.Thr392Ala
XR_938706.1:n.1627A>G
XR_938707.1:n.1627A>G
XM_005262821.4:c.1222A>G	XP_005262878.1:p.Thr408Ala
XM_005262822.4:c.1222A>G	XP_005262879.1:p.Thr408Ala
XM_005262823.4:c.952A>G	XP_005262880.1:p.Thr318Ala
XM_006714137.3:c.1174A>G	XP_006714200.1:p.Thr392Ala
XM_017007884.2:c.*2191A>G	XP_016863373.1:n.*2191A>G
XR_001741172.2:n.1693A>G
NM_000128.4:c.1219A>G MANE Select	NP_000119.1:p.Thr407Ala