Canonical Allele Identifier: CA442644319

Gene: F11

Linked Data

• ClinVar Variation Id: 1591046
• ClinVar RCV Id: RCV002119793
• dbSNP Id: rs1360168118
• gnomAD v4: 4-186275799-A-G
• MyVariant Identifiers: chr4:g.187196953A>G (hg19) ; chr4:g.186275799A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186275799A>G , CM000666.2:g.186275799A>G	GRCh38
NC_000004.11:g.187196953A>G , CM000666.1:g.187196953A>G	GRCh37
NC_000004.10:g.187433947A>G	NCBI36
NG_008051.1:g.14836A>G , LRG_583:g.14836A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.498A>G MANE Select	ENSP00000384957.2:p.Leu166=
ENST00000264692.8:c.336A>G	ENSP00000264692.5:p.Leu112=
ENST00000403665.6:c.498A>G	ENSP00000384957.2:p.Leu166=
NM_000128.3:c.498A>G , LRG_583t1:c.498A>G	NP_000119.1:p.Leu166=
XM_005262821.2:c.498A>G	XP_005262878.1:p.Leu166=
XM_005262822.2:c.498A>G	XP_005262879.1:p.Leu166=
XM_005262823.2:c.485+1524A>G	XP_005262880.1:n.485+1524A>G
XM_005262824.1:c.498A>G	XP_005262881.1:p.Leu166=
XM_006714137.1:c.498A>G	XP_006714200.1:p.Leu166=
XR_938706.1:n.850A>G
XR_938707.1:n.850A>G
XM_005262821.4:c.498A>G	XP_005262878.1:p.Leu166=
XM_005262822.4:c.498A>G	XP_005262879.1:p.Leu166=
XM_005262823.4:c.485+1524A>G	XP_005262880.1:n.485+1524A>G
XM_006714137.3:c.498A>G	XP_006714200.1:p.Leu166=
XM_017007884.2:c.498A>G	XP_016863373.1:p.Leu166=
XM_017007885.2:c.498A>G	XP_016863374.1:p.Leu166=
XM_017007886.2:c.498A>G	XP_016863375.1:p.Leu166=
XR_001741172.2:n.831A>G
NM_000128.4:c.498A>G MANE Select	NP_000119.1:p.Leu166=