Canonical Allele Identifier: CA3163866

Gene: F11

Linked Data

• ClinVar Variation Id: 989868
• ClinVar RCV Id: RCV001277770 ; RCV001486313
• dbSNP Id: rs766026346
• ExAC: 4:187201658 C / T
• gnomAD v2: 4-187201658-C-T
• gnomAD v3: 4-186280504-C-T
• gnomAD v4: 4-186280504-C-T
• MyVariant Identifiers: chr4:g.187201658C>T (hg19) ; chr4:g.186280504C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280504C>T , CM000666.2:g.186280504C>T	GRCh38
NC_000004.11:g.187201658C>T , CM000666.1:g.187201658C>T	GRCh37
NC_000004.10:g.187438652C>T	NCBI36
NG_008051.1:g.19541C>T , LRG_583:g.19541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1059C>T MANE Select	ENSP00000384957.2:p.Asn353=
ENST00000264692.8:c.897C>T	ENSP00000264692.5:p.Asn299=
ENST00000403665.6:c.1059C>T	ENSP00000384957.2:p.Asn353=
ENST00000452239.1:c.506C>T
NM_000128.3:c.1059C>T , LRG_583t1:c.1059C>T	NP_000119.1:p.Asn353=
XM_005262821.2:c.1062C>T	XP_005262878.1:p.Asn354=
XM_005262822.2:c.1062C>T	XP_005262879.1:p.Asn354=
XM_005262823.2:c.792C>T	XP_005262880.1:p.Asn264=
XM_005262824.1:c.1062C>T	XP_005262881.1:p.Asn354=
XM_006714137.1:c.1014C>T	XP_006714200.1:p.Asn338=
XR_938706.1:n.1414C>T
XR_938707.1:n.1414C>T
XM_005262821.4:c.1062C>T	XP_005262878.1:p.Asn354=
XM_005262822.4:c.1062C>T	XP_005262879.1:p.Asn354=
XM_005262823.4:c.792C>T	XP_005262880.1:p.Asn264=
XM_006714137.3:c.1014C>T	XP_006714200.1:p.Asn338=
XM_017007884.2:c.1062C>T	XP_016863373.1:p.Asn354=
XM_017007885.2:c.1062C>T	XP_016863374.1:p.Asn354=
XM_017007886.2:c.1059C>T	XP_016863375.1:p.Asn353=
XR_001741172.2:n.1480C>T
NM_000128.4:c.1059C>T MANE Select	NP_000119.1:p.Asn353=