Canonical Allele Identifier: CA442884448

Gene: F11

Linked Data

• ClinVar Variation Id: 1586694
• ClinVar RCV Id: RCV002100591
• dbSNP Id: rs1561486980
• gnomAD v3: 4-186280507-A-C
• gnomAD v4: 4-186280507-A-C
• MyVariant Identifiers: chr4:g.187201661A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280507A>C , CM000666.2:g.186280507A>C	GRCh38
NC_000004.11:g.187201661A>C , CM000666.1:g.187201661A>C	GRCh37
NC_000004.10:g.187438655A>C	NCBI36
NG_008051.1:g.19544A>C , LRG_583:g.19544A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1062A>C MANE Select	ENSP00000384957.2:p.Gly354=
ENST00000264692.8:c.900A>C	ENSP00000264692.5:p.Gly300=
ENST00000403665.6:c.1062A>C	ENSP00000384957.2:p.Gly354=
ENST00000452239.1:c.509A>C
NM_000128.3:c.1062A>C , LRG_583t1:c.1062A>C	NP_000119.1:p.Gly354=
XM_005262821.2:c.1065A>C	XP_005262878.1:p.Gly355=
XM_005262822.2:c.1065A>C	XP_005262879.1:p.Gly355=
XM_005262823.2:c.795A>C	XP_005262880.1:p.Gly265=
XM_005262824.1:c.1065A>C	XP_005262881.1:p.Gly355=
XM_006714137.1:c.1017A>C	XP_006714200.1:p.Gly339=
XR_938706.1:n.1417A>C
XR_938707.1:n.1417A>C
XM_005262821.4:c.1065A>C	XP_005262878.1:p.Gly355=
XM_005262822.4:c.1065A>C	XP_005262879.1:p.Gly355=
XM_005262823.4:c.795A>C	XP_005262880.1:p.Gly265=
XM_006714137.3:c.1017A>C	XP_006714200.1:p.Gly339=
XM_017007884.2:c.1065A>C	XP_016863373.1:p.Gly355=
XM_017007885.2:c.1065A>C	XP_016863374.1:p.Gly355=
XM_017007886.2:c.1062A>C	XP_016863375.1:p.Gly354=
XR_001741172.2:n.1483A>C
NM_000128.4:c.1062A>C MANE Select	NP_000119.1:p.Gly354=