Canonical Allele Identifier: CA358941480

Gene: F11

Linked Data

• ClinVar Variation Id: 627211
• ClinVar RCV Id: RCV000851996
• dbSNP Id: rs1580098240
• MyVariant Identifiers: chr4:g.187205247G>C (hg19) ; chr4:g.186284093G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186284093G>C , CM000666.2:g.186284093G>C	GRCh38
NC_000004.11:g.187205247G>C , CM000666.1:g.187205247G>C	GRCh37
NC_000004.10:g.187442241G>C	NCBI36
NG_008051.1:g.23130G>C , LRG_583:g.23130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000403665.7:c.1137G>C MANE Select	ENSP00000384957.2:p.Glu379Asp
ENST00000264692.8:c.975G>C	ENSP00000264692.5:p.Glu325Asp
ENST00000403665.6:c.1137G>C	ENSP00000384957.2:p.Glu379Asp
NM_000128.3:c.1137G>C , LRG_583t1:c.1137G>C	NP_000119.1:p.Glu379Asp
XM_005262821.2:c.1140G>C	XP_005262878.1:p.Glu380Asp
XM_005262822.2:c.1140G>C	XP_005262879.1:p.Glu380Asp
XM_005262823.2:c.870G>C	XP_005262880.1:p.Glu290Asp
XM_005262824.1:c.1140G>C	XP_005262881.1:p.Glu380Asp
XM_006714137.1:c.1092G>C	XP_006714200.1:p.Glu364Asp
XR_938706.1:n.1545G>C
XR_938707.1:n.1545G>C
XM_005262821.4:c.1140G>C	XP_005262878.1:p.Glu380Asp
XM_005262822.4:c.1140G>C	XP_005262879.1:p.Glu380Asp
XM_005262823.4:c.870G>C	XP_005262880.1:p.Glu290Asp
XM_006714137.3:c.1092G>C	XP_006714200.1:p.Glu364Asp
XM_017007884.2:c.*2109G>C	XP_016863373.1:n.*2109G>C
XM_017007885.2:c.*5G>C	XP_016863374.1:n.*5G>C
XR_001741172.2:n.1611G>C
NM_000128.4:c.1137G>C MANE Select	NP_000119.1:p.Glu379Asp