Canonical Allele Identifier: CA358941883

Gene: F11

Linked Data

• gnomAD v4: 4-186284170-T-G
• MyVariant Identifiers: chr4:g.187205324T>G (hg19) ; chr4:g.186284170T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284170T>G , CM000666.2:g.186284170T>G	GRCh38
NC_000004.11:g.187205324T>G , CM000666.1:g.187205324T>G	GRCh37
NC_000004.10:g.187442318T>G	NCBI36
NG_008051.1:g.23207T>G , LRG_583:g.23207T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1214T>G MANE Select	ENSP00000384957.2:p.Leu405Arg
ENST00000264692.8:c.1052T>G	ENSP00000264692.5:p.Leu351Arg
ENST00000403665.6:c.1214T>G	ENSP00000384957.2:p.Leu405Arg
NM_000128.3:c.1214T>G , LRG_583t1:c.1214T>G	NP_000119.1:p.Leu405Arg
XM_005262821.2:c.1217T>G	XP_005262878.1:p.Leu406Arg
XM_005262822.2:c.1217T>G	XP_005262879.1:p.Leu406Arg
XM_005262823.2:c.947T>G	XP_005262880.1:p.Leu316Arg
XM_005262824.1:c.1217T>G	XP_005262881.1:p.Leu406Arg
XM_006714137.1:c.1169T>G	XP_006714200.1:p.Leu390Arg
XR_938706.1:n.1622T>G
XR_938707.1:n.1622T>G
XM_005262821.4:c.1217T>G	XP_005262878.1:p.Leu406Arg
XM_005262822.4:c.1217T>G	XP_005262879.1:p.Leu406Arg
XM_005262823.4:c.947T>G	XP_005262880.1:p.Leu316Arg
XM_006714137.3:c.1169T>G	XP_006714200.1:p.Leu390Arg
XM_017007884.2:c.*2186T>G	XP_016863373.1:n.*2186T>G
XR_001741172.2:n.1688T>G
NM_000128.4:c.1214T>G MANE Select	NP_000119.1:p.Leu405Arg