Canonical Allele Identifier: CA112102536

Gene: F11

Linked Data

• dbSNP Id: rs1034175114
• MyVariant Identifiers: chr4:g.187205406T>C (hg19) ; chr4:g.186284252T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284252T>C , CM000666.2:g.186284252T>C	GRCh38
NC_000004.11:g.187205406T>C , CM000666.1:g.187205406T>C	GRCh37
NC_000004.10:g.187442400T>C	NCBI36
NG_008051.1:g.23289T>C , LRG_583:g.23289T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000403665.7:c.1296T>C MANE Select	ENSP00000384957.2:p.Cys432=
ENST00000264692.8:c.1134T>C	ENSP00000264692.5:p.Cys378=
ENST00000403665.6:c.1296T>C	ENSP00000384957.2:p.Cys432=
NM_000128.3:c.1296T>C , LRG_583t1:c.1296T>C	NP_000119.1:p.Cys432=
XM_005262821.2:c.1299T>C	XP_005262878.1:p.Cys433=
XM_005262822.2:c.1299T>C	XP_005262879.1:p.Cys433=
XM_005262823.2:c.1029T>C	XP_005262880.1:p.Cys343=
XM_005262824.1:c.1299T>C	XP_005262881.1:p.Cys433=
XM_006714137.1:c.1251T>C	XP_006714200.1:p.Cys417=
XR_938706.1:n.1704T>C
XR_938707.1:n.1704T>C
XM_005262821.4:c.1299T>C	XP_005262878.1:p.Cys433=
XM_005262822.4:c.1299T>C	XP_005262879.1:p.Cys433=
XM_005262823.4:c.1029T>C	XP_005262880.1:p.Cys343=
XM_006714137.3:c.1251T>C	XP_006714200.1:p.Cys417=
XR_001741172.2:n.1770T>C
NM_000128.4:c.1296T>C MANE Select	NP_000119.1:p.Cys432=