Canonical Allele Identifier: CA442639918

Gene: F11

Linked Data

• ClinVar Variation Id: 2023606
• ClinVar RCV Id: RCV002858076
• MyVariant Identifiers: chr4:g.187206858C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285704C>T , CM000666.2:g.186285704C>T	GRCh38
NC_000004.11:g.187206858C>T , CM000666.1:g.187206858C>T	GRCh37
NC_000004.10:g.187443852C>T	NCBI36
NG_008051.1:g.24741C>T , LRG_583:g.24741C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1371C>T MANE Select	ENSP00000384957.2:p.Asp457=
ENST00000264691.4:c.67C>T
ENST00000264692.8:c.1209C>T	ENSP00000264692.5:p.Asp403=
ENST00000403665.6:c.1371C>T	ENSP00000384957.2:p.Asp457=
NM_000128.3:c.1371C>T , LRG_583t1:c.1371C>T	NP_000119.1:p.Asp457=
XM_005262821.2:c.1374C>T	XP_005262878.1:p.Asp458=
XM_005262822.2:c.1374C>T	XP_005262879.1:p.Asp458=
XM_005262823.2:c.1104C>T	XP_005262880.1:p.Asp368=
XM_005262824.1:c.1374C>T	XP_005262881.1:p.Asp458=
XM_006714137.1:c.1326C>T	XP_006714200.1:p.Asp442=
XR_938706.1:n.1779C>T
XR_938707.1:n.1779C>T
XM_005262821.4:c.1374C>T	XP_005262878.1:p.Asp458=
XM_005262822.4:c.1374C>T	XP_005262879.1:p.Asp458=
XM_005262823.4:c.1104C>T	XP_005262880.1:p.Asp368=
XM_006714137.3:c.1326C>T	XP_006714200.1:p.Asp442=
XR_001741172.2:n.1845C>T
NM_000128.4:c.1371C>T MANE Select	NP_000119.1:p.Asp457=