Canonical Allele Identifier: CA3163979

Gene: F11

Linked Data

• ClinVar Variation Id: 285379
• ClinVar RCV Id: RCV000352684 ; RCV000725651 ; RCV001828215
• dbSNP Id: rs542967227
• ExAC: 4:187206919 G / A
• gnomAD v2: 4-187206919-G-A
• gnomAD v3: 4-186285765-G-A
• gnomAD v4: 4-186285765-G-A
• COSMIC: COSM6228809 ; COSM6228810
• MyVariant Identifiers: chr4:g.187206919G>A (hg19) ; chr4:g.186285765G>A (hg38)
• PubMed: PMID:12716376 ; PMID:15842381 ; PMID:16079124 ; PMID:16835901 ; PMID:19652879

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285765G>A , CM000666.2:g.186285765G>A	GRCh38
NC_000004.11:g.187206919G>A , CM000666.1:g.187206919G>A	GRCh37
NC_000004.10:g.187443913G>A	NCBI36
NG_008051.1:g.24802G>A , LRG_583:g.24802G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1432G>A MANE Select	ENSP00000384957.2:p.Gly478Arg
ENST00000264691.4:c.128G>A
ENST00000264692.8:c.1270G>A	ENSP00000264692.5:p.Gly424Arg
ENST00000403665.6:c.1432G>A	ENSP00000384957.2:p.Gly478Arg
NM_000128.3:c.1432G>A , LRG_583t1:c.1432G>A	NP_000119.1:p.Gly478Arg
XM_005262821.2:c.1435G>A	XP_005262878.1:p.Gly479Arg
XM_005262822.2:c.1435G>A	XP_005262879.1:p.Gly479Arg
XM_005262823.2:c.1165G>A	XP_005262880.1:p.Gly389Arg
XM_005262824.1:c.1435G>A	XP_005262881.1:p.Gly479Arg
XM_006714137.1:c.1387G>A	XP_006714200.1:p.Gly463Arg
XR_938706.1:n.1840G>A
XR_938707.1:n.1840G>A
XM_005262821.4:c.1435G>A	XP_005262878.1:p.Gly479Arg
XM_005262822.4:c.1435G>A	XP_005262879.1:p.Gly479Arg
XM_005262823.4:c.1165G>A	XP_005262880.1:p.Gly389Arg
XM_006714137.3:c.1387G>A	XP_006714200.1:p.Gly463Arg
XR_001741172.2:n.1906G>A
NM_000128.4:c.1432G>A MANE Select	NP_000119.1:p.Gly478Arg