Canonical Allele Identifier: CA3163938

Gene: F11

Linked Data

• ClinVar Variation Id: 555810
• ClinVar RCV Id: RCV000671706
• dbSNP Id: rs533626812
• ExAC: 4:187205385 G / C
• gnomAD v2: 4-187205385-G-C
• gnomAD v3: 4-186284231-G-C
• gnomAD v4: 4-186284231-G-C
• MyVariant Identifiers: chr4:g.187205385G>C (hg19) ; chr4:g.186284231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284231G>C , CM000666.2:g.186284231G>C	GRCh38
NC_000004.11:g.187205385G>C , CM000666.1:g.187205385G>C	GRCh37
NC_000004.10:g.187442379G>C	NCBI36
NG_008051.1:g.23268G>C , LRG_583:g.23268G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1275G>C MANE Select	ENSP00000384957.2:p.Trp425Cys
ENST00000264692.8:c.1113G>C	ENSP00000264692.5:p.Trp371Cys
ENST00000403665.6:c.1275G>C	ENSP00000384957.2:p.Trp425Cys
NM_000128.3:c.1275G>C , LRG_583t1:c.1275G>C	NP_000119.1:p.Trp425Cys
XM_005262821.2:c.1278G>C	XP_005262878.1:p.Trp426Cys
XM_005262822.2:c.1278G>C	XP_005262879.1:p.Trp426Cys
XM_005262823.2:c.1008G>C	XP_005262880.1:p.Trp336Cys
XM_005262824.1:c.1278G>C	XP_005262881.1:p.Trp426Cys
XM_006714137.1:c.1230G>C	XP_006714200.1:p.Trp410Cys
XR_938706.1:n.1683G>C
XR_938707.1:n.1683G>C
XM_005262821.4:c.1278G>C	XP_005262878.1:p.Trp426Cys
XM_005262822.4:c.1278G>C	XP_005262879.1:p.Trp426Cys
XM_005262823.4:c.1008G>C	XP_005262880.1:p.Trp336Cys
XM_006714137.3:c.1230G>C	XP_006714200.1:p.Trp410Cys
XR_001741172.2:n.1749G>C
NM_000128.4:c.1275G>C MANE Select	NP_000119.1:p.Trp425Cys