Canonical Allele Identifier: CA358943632

Gene: F11

Linked Data

• gnomAD v4: 4-186285780-T-A
• MyVariant Identifiers: chr4:g.187206934T>A (hg19) ; chr4:g.186285780T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285780T>A , CM000666.2:g.186285780T>A	GRCh38
NC_000004.11:g.187206934T>A , CM000666.1:g.187206934T>A	GRCh37
NC_000004.10:g.187443928T>A	NCBI36
NG_008051.1:g.24817T>A , LRG_583:g.24817T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1447T>A MANE Select	ENSP00000384957.2:p.Leu483Met
ENST00000264691.4:c.143T>A
ENST00000264692.8:c.1285T>A	ENSP00000264692.5:p.Leu429Met
ENST00000403665.6:c.1447T>A	ENSP00000384957.2:p.Leu483Met
NM_000128.3:c.1447T>A , LRG_583t1:c.1447T>A	NP_000119.1:p.Leu483Met
XM_005262821.2:c.1450T>A	XP_005262878.1:p.Leu484Met
XM_005262822.2:c.1450T>A	XP_005262879.1:p.Leu484Met
XM_005262823.2:c.1180T>A	XP_005262880.1:p.Leu394Met
XM_005262824.1:c.1450T>A	XP_005262881.1:p.Leu484Met
XM_006714137.1:c.1402T>A	XP_006714200.1:p.Leu468Met
XR_938706.1:n.1855T>A
XR_938707.1:n.1855T>A
XM_005262821.4:c.1450T>A	XP_005262878.1:p.Leu484Met
XM_005262822.4:c.1450T>A	XP_005262879.1:p.Leu484Met
XM_005262823.4:c.1180T>A	XP_005262880.1:p.Leu394Met
XM_006714137.3:c.1402T>A	XP_006714200.1:p.Leu468Met
XR_001741172.2:n.1921T>A
NM_000128.4:c.1447T>A MANE Select	NP_000119.1:p.Leu483Met