Canonical Allele Identifier: CA112148989

Gene: F11

Linked Data

• dbSNP Id: rs932824943
• gnomAD v2: 4-187192796-T-G
• MyVariant Identifiers: chr4:g.187192796T>G (hg19) ; chr4:g.186271642T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186271642T>G , CM000666.2:g.186271642T>G	GRCh38
NC_000004.11:g.187192796T>G , CM000666.1:g.187192796T>G	GRCh37
NC_000004.10:g.187429790T>G	NCBI36
NG_008051.1:g.10679T>G , LRG_583:g.10679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.89T>G MANE Select	ENSP00000384957.2:p.Phe30Cys
ENST00000264692.8:c.89T>G	ENSP00000264692.5:p.Phe30Cys
ENST00000403665.6:c.89T>G	ENSP00000384957.2:p.Phe30Cys
ENST00000492972.6:c.89T>G	ENSP00000424479.1:p.Phe30Cys
NM_000128.3:c.89T>G , LRG_583t1:c.89T>G	NP_000119.1:p.Phe30Cys
XM_005262821.2:c.89T>G	XP_005262878.1:p.Phe30Cys
XM_005262822.2:c.89T>G	XP_005262879.1:p.Phe30Cys
XM_005262823.2:c.89T>G	XP_005262880.1:p.Phe30Cys
XM_005262824.1:c.89T>G	XP_005262881.1:p.Phe30Cys
XM_006714137.1:c.89T>G	XP_006714200.1:p.Phe30Cys
XR_938706.1:n.441T>G
XR_938707.1:n.441T>G
NM_001354804.1:c.89T>G	NP_001341733.1:p.Phe30Cys
XM_005262821.4:c.89T>G	XP_005262878.1:p.Phe30Cys
XM_005262822.4:c.89T>G	XP_005262879.1:p.Phe30Cys
XM_005262823.4:c.89T>G	XP_005262880.1:p.Phe30Cys
XM_006714137.3:c.89T>G	XP_006714200.1:p.Phe30Cys
XM_017007884.2:c.89T>G	XP_016863373.1:p.Phe30Cys
XM_017007885.2:c.89T>G	XP_016863374.1:p.Phe30Cys
XM_017007886.2:c.89T>G	XP_016863375.1:p.Phe30Cys
XR_001741172.2:n.422T>G
NM_000128.4:c.89T>G MANE Select	NP_000119.1:p.Phe30Cys
NM_001354804.2:c.89T>G	NP_001341733.1:p.Phe30Cys