Canonical Allele Identifier: CA3163976

Gene: F11

Linked Data

• dbSNP Id: rs757230548
• ExAC: 4:187206895 G / A
• gnomAD v2: 4-187206895-G-A
• gnomAD v4: 4-186285741-G-A
• MyVariant Identifiers: chr4:g.187206895G>A (hg19) ; chr4:g.186285741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285741G>A , CM000666.2:g.186285741G>A	GRCh38
NC_000004.11:g.187206895G>A , CM000666.1:g.187206895G>A	GRCh37
NC_000004.10:g.187443889G>A	NCBI36
NG_008051.1:g.24778G>A , LRG_583:g.24778G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1408G>A MANE Select	ENSP00000384957.2:p.Asp470Asn
ENST00000264691.4:c.104G>A
ENST00000264692.8:c.1246G>A	ENSP00000264692.5:p.Asp416Asn
ENST00000403665.6:c.1408G>A	ENSP00000384957.2:p.Asp470Asn
NM_000128.3:c.1408G>A , LRG_583t1:c.1408G>A	NP_000119.1:p.Asp470Asn
XM_005262821.2:c.1411G>A	XP_005262878.1:p.Asp471Asn
XM_005262822.2:c.1411G>A	XP_005262879.1:p.Asp471Asn
XM_005262823.2:c.1141G>A	XP_005262880.1:p.Asp381Asn
XM_005262824.1:c.1411G>A	XP_005262881.1:p.Asp471Asn
XM_006714137.1:c.1363G>A	XP_006714200.1:p.Asp455Asn
XR_938706.1:n.1816G>A
XR_938707.1:n.1816G>A
XM_005262821.4:c.1411G>A	XP_005262878.1:p.Asp471Asn
XM_005262822.4:c.1411G>A	XP_005262879.1:p.Asp471Asn
XM_005262823.4:c.1141G>A	XP_005262880.1:p.Asp381Asn
XM_006714137.3:c.1363G>A	XP_006714200.1:p.Asp455Asn
XR_001741172.2:n.1882G>A
NM_000128.4:c.1408G>A MANE Select	NP_000119.1:p.Asp470Asn