Canonical Allele Identifier: CA358957865

Gene: F11

Linked Data

• ClinVar Variation Id: 1703828
• ClinVar RCV Id: RCV002280987
• gnomAD v4: 4-186271642-T-C
• MyVariant Identifiers: chr4:g.187192796T>C (hg19) ; chr4:g.186271642T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.89T>C MANE Select	ENSP00000384957.2:p.Phe30Ser
ENST00000264692.8:c.89T>C	ENSP00000264692.5:p.Phe30Ser
ENST00000403665.6:c.89T>C	ENSP00000384957.2:p.Phe30Ser
ENST00000492972.6:c.89T>C	ENSP00000424479.1:p.Phe30Ser
NM_000128.3:c.89T>C , LRG_583t1:c.89T>C	NP_000119.1:p.Phe30Ser
XM_005262821.2:c.89T>C	XP_005262878.1:p.Phe30Ser
XM_005262822.2:c.89T>C	XP_005262879.1:p.Phe30Ser
XM_005262823.2:c.89T>C	XP_005262880.1:p.Phe30Ser
XM_005262824.1:c.89T>C	XP_005262881.1:p.Phe30Ser
XM_006714137.1:c.89T>C	XP_006714200.1:p.Phe30Ser
XR_938706.1:n.441T>C
XR_938707.1:n.441T>C
NM_001354804.1:c.89T>C	NP_001341733.1:p.Phe30Ser
XM_005262821.4:c.89T>C	XP_005262878.1:p.Phe30Ser
XM_005262822.4:c.89T>C	XP_005262879.1:p.Phe30Ser
XM_005262823.4:c.89T>C	XP_005262880.1:p.Phe30Ser
XM_006714137.3:c.89T>C	XP_006714200.1:p.Phe30Ser
XM_017007884.2:c.89T>C	XP_016863373.1:p.Phe30Ser
XM_017007885.2:c.89T>C	XP_016863374.1:p.Phe30Ser
XM_017007886.2:c.89T>C	XP_016863375.1:p.Phe30Ser
XR_001741172.2:n.422T>C
NM_000128.4:c.89T>C MANE Select	NP_000119.1:p.Phe30Ser
NM_001354804.2:c.89T>C	NP_001341733.1:p.Phe30Ser