Canonical Allele Identifier: CA112103821

Gene: F11

Linked Data

• dbSNP Id: rs1023224624
• gnomAD v3: 4-186285808-A-G
• gnomAD v4: 4-186285808-A-G
• MyVariant Identifiers: chr4:g.187206962A>G (hg19) ; chr4:g.186285808A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285808A>G , CM000666.2:g.186285808A>G	GRCh38
NC_000004.11:g.187206962A>G , CM000666.1:g.187206962A>G	GRCh37
NC_000004.10:g.187443956A>G	NCBI36
NG_008051.1:g.24845A>G , LRG_583:g.24845A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1475A>G MANE Select	ENSP00000384957.2:p.Tyr492Cys
ENST00000264691.4:c.171A>G
ENST00000264692.8:c.1313A>G	ENSP00000264692.5:p.Tyr438Cys
ENST00000403665.6:c.1475A>G	ENSP00000384957.2:p.Tyr492Cys
NM_000128.3:c.1475A>G , LRG_583t1:c.1475A>G	NP_000119.1:p.Tyr492Cys
XM_005262821.2:c.1478A>G	XP_005262878.1:p.Tyr493Cys
XM_005262822.2:c.1478A>G	XP_005262879.1:p.Tyr493Cys
XM_005262823.2:c.1208A>G	XP_005262880.1:p.Tyr403Cys
XM_005262824.1:c.1478A>G	XP_005262881.1:p.Tyr493Cys
XM_006714137.1:c.1430A>G	XP_006714200.1:p.Tyr477Cys
XR_938706.1:n.1883A>G
XR_938707.1:n.1883A>G
XM_005262821.4:c.1478A>G	XP_005262878.1:p.Tyr493Cys
XM_005262822.4:c.1478A>G	XP_005262879.1:p.Tyr493Cys
XM_005262823.4:c.1208A>G	XP_005262880.1:p.Tyr403Cys
XM_006714137.3:c.1430A>G	XP_006714200.1:p.Tyr477Cys
XR_001741172.2:n.1949A>G
NM_000128.4:c.1475A>G MANE Select	NP_000119.1:p.Tyr492Cys