Canonical Allele Identifier: CA3163788

Gene: F11

Linked Data

• dbSNP Id: rs755345629
• ExAC: 4:187201215 A / C
• gnomAD v2: 4-187201215-A-C
• gnomAD v4: 4-186280061-A-C
• MyVariant Identifiers: chr4:g.187201215A>C (hg19) ; chr4:g.186280061A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280061A>C , CM000666.2:g.186280061A>C	GRCh38
NC_000004.11:g.187201215A>C , CM000666.1:g.187201215A>C	GRCh37
NC_000004.10:g.187438209A>C	NCBI36
NG_008051.1:g.19098A>C , LRG_583:g.19098A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.805A>C MANE Select	ENSP00000384957.2:p.Ile269Leu
ENST00000264692.8:c.643A>C	ENSP00000264692.5:p.Ile215Leu
ENST00000403665.6:c.805A>C	ENSP00000384957.2:p.Ile269Leu
ENST00000452239.1:c.252A>C
NM_000128.3:c.805A>C , LRG_583t1:c.805A>C	NP_000119.1:p.Ile269Leu
XM_005262821.2:c.805A>C	XP_005262878.1:p.Ile269Leu
XM_005262822.2:c.805A>C	XP_005262879.1:p.Ile269Leu
XM_005262823.2:c.535A>C	XP_005262880.1:p.Ile179Leu
XM_005262824.1:c.805A>C	XP_005262881.1:p.Ile269Leu
XM_006714137.1:c.805A>C	XP_006714200.1:p.Ile269Leu
XR_938706.1:n.1157A>C
XR_938707.1:n.1157A>C
XM_005262821.4:c.805A>C	XP_005262878.1:p.Ile269Leu
XM_005262822.4:c.805A>C	XP_005262879.1:p.Ile269Leu
XM_005262823.4:c.535A>C	XP_005262880.1:p.Ile179Leu
XM_006714137.3:c.805A>C	XP_006714200.1:p.Ile269Leu
XM_017007884.2:c.805A>C	XP_016863373.1:p.Ile269Leu
XM_017007885.2:c.805A>C	XP_016863374.1:p.Ile269Leu
XM_017007886.2:c.805A>C	XP_016863375.1:p.Ile269Leu
XR_001741172.2:n.1138A>C
NM_000128.4:c.805A>C MANE Select	NP_000119.1:p.Ile269Leu