Canonical Allele Identifier: CA3163943

Gene: F11

Linked Data

• ClinVar Variation Id: 1110026
• ClinVar RCV Id: RCV001436109
• dbSNP Id: rs138122638
• ExAC: 4:187205397 C / A
• gnomAD v2: 4-187205397-C-A
• gnomAD v3: 4-186284243-C-A
• gnomAD v4: 4-186284243-C-A
• MyVariant Identifiers: chr4:g.187205397C>A (hg19) ; chr4:g.186284243C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284243C>A , CM000666.2:g.186284243C>A	GRCh38
NC_000004.11:g.187205397C>A , CM000666.1:g.187205397C>A	GRCh37
NC_000004.10:g.187442391C>A	NCBI36
NG_008051.1:g.23280C>A , LRG_583:g.23280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1287C>A MANE Select	ENSP00000384957.2:p.Ala429=
ENST00000264692.8:c.1125C>A	ENSP00000264692.5:p.Ala375=
ENST00000403665.6:c.1287C>A	ENSP00000384957.2:p.Ala429=
NM_000128.3:c.1287C>A , LRG_583t1:c.1287C>A	NP_000119.1:p.Ala429=
XM_005262821.2:c.1290C>A	XP_005262878.1:p.Ala430=
XM_005262822.2:c.1290C>A	XP_005262879.1:p.Ala430=
XM_005262823.2:c.1020C>A	XP_005262880.1:p.Ala340=
XM_005262824.1:c.1290C>A	XP_005262881.1:p.Ala430=
XM_006714137.1:c.1242C>A	XP_006714200.1:p.Ala414=
XR_938706.1:n.1695C>A
XR_938707.1:n.1695C>A
XM_005262821.4:c.1290C>A	XP_005262878.1:p.Ala430=
XM_005262822.4:c.1290C>A	XP_005262879.1:p.Ala430=
XM_005262823.4:c.1020C>A	XP_005262880.1:p.Ala340=
XM_006714137.3:c.1242C>A	XP_006714200.1:p.Ala414=
XR_001741172.2:n.1761C>A
NM_000128.4:c.1287C>A MANE Select	NP_000119.1:p.Ala429=