Canonical Allele Identifier: CA358942033

Gene: F11

Linked Data

• dbSNP Id: rs2126773304
• gnomAD v4: 4-186284202-T-C
• MyVariant Identifiers: chr4:g.187205356T>C (hg19) ; chr4:g.186284202T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284202T>C , CM000666.2:g.186284202T>C	GRCh38
NC_000004.11:g.187205356T>C , CM000666.1:g.187205356T>C	GRCh37
NC_000004.10:g.187442350T>C	NCBI36
NG_008051.1:g.23239T>C , LRG_583:g.23239T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1246T>C MANE Select	ENSP00000384957.2:p.Cys416Arg
ENST00000264692.8:c.1084T>C	ENSP00000264692.5:p.Cys362Arg
ENST00000403665.6:c.1246T>C	ENSP00000384957.2:p.Cys416Arg
NM_000128.3:c.1246T>C , LRG_583t1:c.1246T>C	NP_000119.1:p.Cys416Arg
XM_005262821.2:c.1249T>C	XP_005262878.1:p.Cys417Arg
XM_005262822.2:c.1249T>C	XP_005262879.1:p.Cys417Arg
XM_005262823.2:c.979T>C	XP_005262880.1:p.Cys327Arg
XM_005262824.1:c.1249T>C	XP_005262881.1:p.Cys417Arg
XM_006714137.1:c.1201T>C	XP_006714200.1:p.Cys401Arg
XR_938706.1:n.1654T>C
XR_938707.1:n.1654T>C
XM_005262821.4:c.1249T>C	XP_005262878.1:p.Cys417Arg
XM_005262822.4:c.1249T>C	XP_005262879.1:p.Cys417Arg
XM_005262823.4:c.979T>C	XP_005262880.1:p.Cys327Arg
XM_006714137.3:c.1201T>C	XP_006714200.1:p.Cys401Arg
XR_001741172.2:n.1720T>C
NM_000128.4:c.1246T>C MANE Select	NP_000119.1:p.Cys416Arg