Canonical Allele Identifier: CA3163940

Gene: F11

Linked Data

• dbSNP Id: rs762616690
• ExAC: 4:187205386 A / C
• gnomAD v2: 4-187205386-A-C
• gnomAD v4: 4-186284232-A-C
• MyVariant Identifiers: chr4:g.187205386A>C (hg19) ; chr4:g.186284232A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284232A>C , CM000666.2:g.186284232A>C	GRCh38
NC_000004.11:g.187205386A>C , CM000666.1:g.187205386A>C	GRCh37
NC_000004.10:g.187442380A>C	NCBI36
NG_008051.1:g.23269A>C , LRG_583:g.23269A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1276A>C MANE Select	ENSP00000384957.2:p.Ile426Leu
ENST00000264692.8:c.1114A>C	ENSP00000264692.5:p.Ile372Leu
ENST00000403665.6:c.1276A>C	ENSP00000384957.2:p.Ile426Leu
NM_000128.3:c.1276A>C , LRG_583t1:c.1276A>C	NP_000119.1:p.Ile426Leu
XM_005262821.2:c.1279A>C	XP_005262878.1:p.Ile427Leu
XM_005262822.2:c.1279A>C	XP_005262879.1:p.Ile427Leu
XM_005262823.2:c.1009A>C	XP_005262880.1:p.Ile337Leu
XM_005262824.1:c.1279A>C	XP_005262881.1:p.Ile427Leu
XM_006714137.1:c.1231A>C	XP_006714200.1:p.Ile411Leu
XR_938706.1:n.1684A>C
XR_938707.1:n.1684A>C
XM_005262821.4:c.1279A>C	XP_005262878.1:p.Ile427Leu
XM_005262822.4:c.1279A>C	XP_005262879.1:p.Ile427Leu
XM_005262823.4:c.1009A>C	XP_005262880.1:p.Ile337Leu
XM_006714137.3:c.1231A>C	XP_006714200.1:p.Ile411Leu
XR_001741172.2:n.1750A>C
NM_000128.4:c.1276A>C MANE Select	NP_000119.1:p.Ile426Leu