Canonical Allele Identifier: CA3163862

Gene: F11

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1048C>T MANE Select	ENSP00000384957.2:p.Leu350Phe
ENST00000264692.8:c.886C>T	ENSP00000264692.5:p.Leu296Phe
ENST00000403665.6:c.1048C>T	ENSP00000384957.2:p.Leu350Phe
ENST00000452239.1:c.495C>T
NM_000128.3:c.1048C>T , LRG_583t1:c.1048C>T	NP_000119.1:p.Leu350Phe
XM_005262821.2:c.1051C>T	XP_005262878.1:p.Leu351Phe
XM_005262822.2:c.1051C>T	XP_005262879.1:p.Leu351Phe
XM_005262823.2:c.781C>T	XP_005262880.1:p.Leu261Phe
XM_005262824.1:c.1051C>T	XP_005262881.1:p.Leu351Phe
XM_006714137.1:c.1003C>T	XP_006714200.1:p.Leu335Phe
XR_938706.1:n.1403C>T
XR_938707.1:n.1403C>T
XM_005262821.4:c.1051C>T	XP_005262878.1:p.Leu351Phe
XM_005262822.4:c.1051C>T	XP_005262879.1:p.Leu351Phe
XM_005262823.4:c.781C>T	XP_005262880.1:p.Leu261Phe
XM_006714137.3:c.1003C>T	XP_006714200.1:p.Leu335Phe
XM_017007884.2:c.1051C>T	XP_016863373.1:p.Leu351Phe
XM_017007885.2:c.1051C>T	XP_016863374.1:p.Leu351Phe
XM_017007886.2:c.1048C>T	XP_016863375.1:p.Leu350Phe
XR_001741172.2:n.1469C>T
NM_000128.4:c.1048C>T MANE Select	NP_000119.1:p.Leu350Phe