Canonical Allele Identifier: CA3163982

Gene: F11

Linked Data

• dbSNP Id: rs377394744
• ExAC: 4:187206932 C / T
• gnomAD v2: 4-187206932-C-T
• gnomAD v3: 4-186285778-C-T
• gnomAD v4: 4-186285778-C-T
• MyVariant Identifiers: chr4:g.187206932C>T (hg19) ; chr4:g.186285778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186285778C>T , CM000666.2:g.186285778C>T	GRCh38
NC_000004.11:g.187206932C>T , CM000666.1:g.187206932C>T	GRCh37
NC_000004.10:g.187443926C>T	NCBI36
NG_008051.1:g.24815C>T , LRG_583:g.24815C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1445C>T MANE Select	ENSP00000384957.2:p.Ala482Val
ENST00000264691.4:c.141C>T
ENST00000264692.8:c.1283C>T	ENSP00000264692.5:p.Ala428Val
ENST00000403665.6:c.1445C>T	ENSP00000384957.2:p.Ala482Val
NM_000128.3:c.1445C>T , LRG_583t1:c.1445C>T	NP_000119.1:p.Ala482Val
XM_005262821.2:c.1448C>T	XP_005262878.1:p.Ala483Val
XM_005262822.2:c.1448C>T	XP_005262879.1:p.Ala483Val
XM_005262823.2:c.1178C>T	XP_005262880.1:p.Ala393Val
XM_005262824.1:c.1448C>T	XP_005262881.1:p.Ala483Val
XM_006714137.1:c.1400C>T	XP_006714200.1:p.Ala467Val
XR_938706.1:n.1853C>T
XR_938707.1:n.1853C>T
XM_005262821.4:c.1448C>T	XP_005262878.1:p.Ala483Val
XM_005262822.4:c.1448C>T	XP_005262879.1:p.Ala483Val
XM_005262823.4:c.1178C>T	XP_005262880.1:p.Ala393Val
XM_006714137.3:c.1400C>T	XP_006714200.1:p.Ala467Val
XR_001741172.2:n.1919C>T
NM_000128.4:c.1445C>T MANE Select	NP_000119.1:p.Ala482Val