Canonical Allele Identifier: CA3163920

Gene: F11

Linked Data

• dbSNP Id: rs149689934
• ExAC: 4:187205316 G / T
• gnomAD v2: 4-187205316-G-T
• gnomAD v3: 4-186284162-G-T
• gnomAD v4: 4-186284162-G-T
• MyVariant Identifiers: chr4:g.187205316G>T (hg19) ; chr4:g.186284162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284162G>T , CM000666.2:g.186284162G>T	GRCh38
NC_000004.11:g.187205316G>T , CM000666.1:g.187205316G>T	GRCh37
NC_000004.10:g.187442310G>T	NCBI36
NG_008051.1:g.23199G>T , LRG_583:g.23199G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1206G>T MANE Select	ENSP00000384957.2:p.Gln402His
ENST00000264692.8:c.1044G>T	ENSP00000264692.5:p.Gln348His
ENST00000403665.6:c.1206G>T	ENSP00000384957.2:p.Gln402His
NM_000128.3:c.1206G>T , LRG_583t1:c.1206G>T	NP_000119.1:p.Gln402His
XM_005262821.2:c.1209G>T	XP_005262878.1:p.Gln403His
XM_005262822.2:c.1209G>T	XP_005262879.1:p.Gln403His
XM_005262823.2:c.939G>T	XP_005262880.1:p.Gln313His
XM_005262824.1:c.1209G>T	XP_005262881.1:p.Gln403His
XM_006714137.1:c.1161G>T	XP_006714200.1:p.Gln387His
XR_938706.1:n.1614G>T
XR_938707.1:n.1614G>T
XM_005262821.4:c.1209G>T	XP_005262878.1:p.Gln403His
XM_005262822.4:c.1209G>T	XP_005262879.1:p.Gln403His
XM_005262823.4:c.939G>T	XP_005262880.1:p.Gln313His
XM_006714137.3:c.1161G>T	XP_006714200.1:p.Gln387His
XM_017007884.2:c.*2178G>T	XP_016863373.1:n.*2178G>T
XM_017007885.2:c.*74G>T	XP_016863374.1:n.*74G>T
XR_001741172.2:n.1680G>T
NM_000128.4:c.1206G>T MANE Select	NP_000119.1:p.Gln402His