Canonical Allele Identifier: CA358958708

Gene: F11

Linked Data

• ClinVar Variation Id: 2491440
• ClinVar RCV Id: RCV003212721
• dbSNP Id: rs144674776
• gnomAD v3: 4-186274257-T-C
• gnomAD v4: 4-186274257-T-C
• MyVariant Identifiers: chr4:g.187195411T>C (hg19) ; chr4:g.186274257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186274257T>C , CM000666.2:g.186274257T>C	GRCh38
NC_000004.11:g.187195411T>C , CM000666.1:g.187195411T>C	GRCh37
NC_000004.10:g.187432405T>C	NCBI36
NG_008051.1:g.13294T>C , LRG_583:g.13294T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.467T>C MANE Select	ENSP00000384957.2:p.Phe156Ser
ENST00000264692.8:c.323+1082T>C	ENSP00000264692.5:n.323+1082T>C
ENST00000403665.6:c.467T>C	ENSP00000384957.2:p.Phe156Ser
ENST00000492972.6:c.467T>C	ENSP00000424479.1:p.Phe156Ser
ENST00000514715.1:n.339T>C
NM_000128.3:c.467T>C , LRG_583t1:c.467T>C	NP_000119.1:p.Phe156Ser
XM_005262821.2:c.467T>C	XP_005262878.1:p.Phe156Ser
XM_005262822.2:c.467T>C	XP_005262879.1:p.Phe156Ser
XM_005262823.2:c.467T>C	XP_005262880.1:p.Phe156Ser
XM_005262824.1:c.467T>C	XP_005262881.1:p.Phe156Ser
XM_006714137.1:c.467T>C	XP_006714200.1:p.Phe156Ser
XR_938706.1:n.819T>C
XR_938707.1:n.819T>C
NM_001354804.1:c.467T>C	NP_001341733.1:p.Phe156Ser
XM_005262821.4:c.467T>C	XP_005262878.1:p.Phe156Ser
XM_005262822.4:c.467T>C	XP_005262879.1:p.Phe156Ser
XM_005262823.4:c.467T>C	XP_005262880.1:p.Phe156Ser
XM_006714137.3:c.467T>C	XP_006714200.1:p.Phe156Ser
XM_017007884.2:c.467T>C	XP_016863373.1:p.Phe156Ser
XM_017007885.2:c.467T>C	XP_016863374.1:p.Phe156Ser
XM_017007886.2:c.467T>C	XP_016863375.1:p.Phe156Ser
XR_001741172.2:n.800T>C
NM_000128.4:c.467T>C MANE Select	NP_000119.1:p.Phe156Ser
NM_001354804.2:c.467T>C	NP_001341733.1:p.Phe156Ser