Canonical Allele Identifier: CA3163931

Gene: F11

Linked Data

• ClinVar Variation Id: 1585820
• ClinVar RCV Id: RCV002097801
• dbSNP Id: rs145377771
• ExAC: 4:187205355 G / T
• gnomAD v2: 4-187205355-G-T
• gnomAD v3: 4-186284201-G-T
• gnomAD v4: 4-186284201-G-T
• MyVariant Identifiers: chr4:g.187205355G>T (hg19) ; chr4:g.186284201G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284201G>T , CM000666.2:g.186284201G>T	GRCh38
NC_000004.11:g.187205355G>T , CM000666.1:g.187205355G>T	GRCh37
NC_000004.10:g.187442349G>T	NCBI36
NG_008051.1:g.23238G>T , LRG_583:g.23238G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1245G>T MANE Select	ENSP00000384957.2:p.Leu415=
ENST00000264692.8:c.1083G>T	ENSP00000264692.5:p.Leu361=
ENST00000403665.6:c.1245G>T	ENSP00000384957.2:p.Leu415=
NM_000128.3:c.1245G>T , LRG_583t1:c.1245G>T	NP_000119.1:p.Leu415=
XM_005262821.2:c.1248G>T	XP_005262878.1:p.Leu416=
XM_005262822.2:c.1248G>T	XP_005262879.1:p.Leu416=
XM_005262823.2:c.978G>T	XP_005262880.1:p.Leu326=
XM_005262824.1:c.1248G>T	XP_005262881.1:p.Leu416=
XM_006714137.1:c.1200G>T	XP_006714200.1:p.Leu400=
XR_938706.1:n.1653G>T
XR_938707.1:n.1653G>T
XM_005262821.4:c.1248G>T	XP_005262878.1:p.Leu416=
XM_005262822.4:c.1248G>T	XP_005262879.1:p.Leu416=
XM_005262823.4:c.978G>T	XP_005262880.1:p.Leu326=
XM_006714137.3:c.1200G>T	XP_006714200.1:p.Leu400=
XR_001741172.2:n.1719G>T
NM_000128.4:c.1245G>T MANE Select	NP_000119.1:p.Leu415=