Canonical Allele Identifier: CA112102257

Gene: F11

Linked Data

• ClinVar Variation Id: 989869
• ClinVar RCV Id: RCV001277771
• dbSNP Id: rs898672548
• gnomAD v3: 4-186284130-A-G
• gnomAD v4: 4-186284130-A-G
• MyVariant Identifiers: chr4:g.187205284A>G (hg19) ; chr4:g.186284130A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284130A>G , CM000666.2:g.186284130A>G	GRCh38
NC_000004.11:g.187205284A>G , CM000666.1:g.187205284A>G	GRCh37
NC_000004.10:g.187442278A>G	NCBI36
NG_008051.1:g.23167A>G , LRG_583:g.23167A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1174A>G MANE Select	ENSP00000384957.2:p.Thr392Ala
ENST00000264692.8:c.1012A>G	ENSP00000264692.5:p.Thr338Ala
ENST00000403665.6:c.1174A>G	ENSP00000384957.2:p.Thr392Ala
NM_000128.3:c.1174A>G , LRG_583t1:c.1174A>G	NP_000119.1:p.Thr392Ala
XM_005262821.2:c.1177A>G	XP_005262878.1:p.Thr393Ala
XM_005262822.2:c.1177A>G	XP_005262879.1:p.Thr393Ala
XM_005262823.2:c.907A>G	XP_005262880.1:p.Thr303Ala
XM_005262824.1:c.1177A>G	XP_005262881.1:p.Thr393Ala
XM_006714137.1:c.1129A>G	XP_006714200.1:p.Thr377Ala
XR_938706.1:n.1582A>G
XR_938707.1:n.1582A>G
XM_005262821.4:c.1177A>G	XP_005262878.1:p.Thr393Ala
XM_005262822.4:c.1177A>G	XP_005262879.1:p.Thr393Ala
XM_005262823.4:c.907A>G	XP_005262880.1:p.Thr303Ala
XM_006714137.3:c.1129A>G	XP_006714200.1:p.Thr377Ala
XM_017007884.2:c.*2146A>G	XP_016863373.1:n.*2146A>G
XM_017007885.2:c.*42A>G	XP_016863374.1:n.*42A>G
XR_001741172.2:n.1648A>G
NM_000128.4:c.1174A>G MANE Select	NP_000119.1:p.Thr392Ala