Canonical Allele Identifier: CA358938250
Gene: F11 HGNC NCBI

Linked Data

dbSNP Id: rs1370624697
gnomAD v2: 4-187201501-T-A
gnomAD v3: 4-186280347-T-A
gnomAD v4: 4-186280347-T-A
MyVariant Identifiers: chr4:g.187201501T>A (hg19) chr4:g.186280347T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186280347T>A , CM000666.2:g.186280347T>A GRCh38
NC_000004.11:g.187201501T>A , CM000666.1:g.187201501T>A GRCh37
NC_000004.10:g.187438495T>A NCBI36
NG_008051.1:g.19384T>A , LRG_583:g.19384T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.990T>A MANE Select ENSP00000384957.2:p.Phe330Leu
ENST00000264692.8:c.828T>A ENSP00000264692.5:p.Phe276Leu
ENST00000403665.6:c.990T>A ENSP00000384957.2:p.Phe330Leu
ENST00000452239.1:c.437T>A
NM_000128.3:c.990T>A , LRG_583t1:c.990T>A NP_000119.1:p.Phe330Leu
XM_005262821.2:c.990T>A XP_005262878.1:p.Phe330Leu
XM_005262822.2:c.990T>A XP_005262879.1:p.Phe330Leu
XM_005262823.2:c.720T>A XP_005262880.1:p.Phe240Leu
XM_005262824.1:c.990T>A XP_005262881.1:p.Phe330Leu
XM_006714137.1:c.942T>A XP_006714200.1:p.Phe314Leu
XR_938706.1:n.1342T>A
XR_938707.1:n.1342T>A
XM_005262821.4:c.990T>A XP_005262878.1:p.Phe330Leu
XM_005262822.4:c.990T>A XP_005262879.1:p.Phe330Leu
XM_005262823.4:c.720T>A XP_005262880.1:p.Phe240Leu
XM_006714137.3:c.942T>A XP_006714200.1:p.Phe314Leu
XM_017007884.2:c.990T>A XP_016863373.1:p.Phe330Leu
XM_017007885.2:c.990T>A XP_016863374.1:p.Phe330Leu
XM_017007886.2:c.990T>A XP_016863375.1:p.Phe330Leu
XR_001741172.2:n.1323T>A
NM_000128.4:c.990T>A MANE Select NP_000119.1:p.Phe330Leu
Search 100 bp 5'
Search 100 bp 3'