Canonical Allele Identifier: CA358941723

Gene: F11

Linked Data

• dbSNP Id: rs1344943417
• gnomAD v2: 4-187205293-G-T
• MyVariant Identifiers: chr4:g.187205293G>T (hg19) ; chr4:g.186284139G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284139G>T , CM000666.2:g.186284139G>T	GRCh38
NC_000004.11:g.187205293G>T , CM000666.1:g.187205293G>T	GRCh37
NC_000004.10:g.187442287G>T	NCBI36
NG_008051.1:g.23176G>T , LRG_583:g.23176G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1183G>T MANE Select	ENSP00000384957.2:p.Val395Phe
ENST00000264692.8:c.1021G>T	ENSP00000264692.5:p.Val341Phe
ENST00000403665.6:c.1183G>T	ENSP00000384957.2:p.Val395Phe
NM_000128.3:c.1183G>T , LRG_583t1:c.1183G>T	NP_000119.1:p.Val395Phe
XM_005262821.2:c.1186G>T	XP_005262878.1:p.Val396Phe
XM_005262822.2:c.1186G>T	XP_005262879.1:p.Val396Phe
XM_005262823.2:c.916G>T	XP_005262880.1:p.Val306Phe
XM_005262824.1:c.1186G>T	XP_005262881.1:p.Val396Phe
XM_006714137.1:c.1138G>T	XP_006714200.1:p.Val380Phe
XR_938706.1:n.1591G>T
XR_938707.1:n.1591G>T
XM_005262821.4:c.1186G>T	XP_005262878.1:p.Val396Phe
XM_005262822.4:c.1186G>T	XP_005262879.1:p.Val396Phe
XM_005262823.4:c.916G>T	XP_005262880.1:p.Val306Phe
XM_006714137.3:c.1138G>T	XP_006714200.1:p.Val380Phe
XM_017007884.2:c.*2155G>T	XP_016863373.1:n.*2155G>T
XM_017007885.2:c.*51G>T	XP_016863374.1:n.*51G>T
XR_001741172.2:n.1657G>T
NM_000128.4:c.1183G>T MANE Select	NP_000119.1:p.Val395Phe