Canonical Allele Identifier: CA358938659

Gene: F11

Linked Data

• dbSNP Id: rs751140931
• gnomAD v2: 4-187201647-C-G
• gnomAD v4: 4-186280493-C-G
• MyVariant Identifiers: chr4:g.187201647C>G (hg19) ; chr4:g.186280493C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186280493C>G , CM000666.2:g.186280493C>G	GRCh38
NC_000004.11:g.187201647C>G , CM000666.1:g.187201647C>G	GRCh37
NC_000004.10:g.187438641C>G	NCBI36
NG_008051.1:g.19530C>G , LRG_583:g.19530C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1048C>G MANE Select	ENSP00000384957.2:p.Leu350Val
ENST00000264692.8:c.886C>G	ENSP00000264692.5:p.Leu296Val
ENST00000403665.6:c.1048C>G	ENSP00000384957.2:p.Leu350Val
ENST00000452239.1:c.495C>G
NM_000128.3:c.1048C>G , LRG_583t1:c.1048C>G	NP_000119.1:p.Leu350Val
XM_005262821.2:c.1051C>G	XP_005262878.1:p.Leu351Val
XM_005262822.2:c.1051C>G	XP_005262879.1:p.Leu351Val
XM_005262823.2:c.781C>G	XP_005262880.1:p.Leu261Val
XM_005262824.1:c.1051C>G	XP_005262881.1:p.Leu351Val
XM_006714137.1:c.1003C>G	XP_006714200.1:p.Leu335Val
XR_938706.1:n.1403C>G
XR_938707.1:n.1403C>G
XM_005262821.4:c.1051C>G	XP_005262878.1:p.Leu351Val
XM_005262822.4:c.1051C>G	XP_005262879.1:p.Leu351Val
XM_005262823.4:c.781C>G	XP_005262880.1:p.Leu261Val
XM_006714137.3:c.1003C>G	XP_006714200.1:p.Leu335Val
XM_017007884.2:c.1051C>G	XP_016863373.1:p.Leu351Val
XM_017007885.2:c.1051C>G	XP_016863374.1:p.Leu351Val
XM_017007886.2:c.1048C>G	XP_016863375.1:p.Leu350Val
XR_001741172.2:n.1469C>G
NM_000128.4:c.1048C>G MANE Select	NP_000119.1:p.Leu350Val