Canonical Allele Identifier: CA442638902
Gene: F11 HGNC NCBI

Linked Data

ClinVar Variation Id: 1102568
ClinVar RCV Id: RCV001425914
dbSNP Id: rs1740996270
MyVariant Identifiers: chr4:g.187205268C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186284114C>G , CM000666.2:g.186284114C>G GRCh38
NC_000004.11:g.187205268C>G , CM000666.1:g.187205268C>G GRCh37
NC_000004.10:g.187442262C>G NCBI36
NG_008051.1:g.23151C>G , LRG_583:g.23151C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000403665.7:c.1158C>G MANE Select ENSP00000384957.2:p.Pro386=
ENST00000264692.8:c.996C>G ENSP00000264692.5:p.Pro332=
ENST00000403665.6:c.1158C>G ENSP00000384957.2:p.Pro386=
NM_000128.3:c.1158C>G , LRG_583t1:c.1158C>G NP_000119.1:p.Pro386=
XM_005262821.2:c.1161C>G XP_005262878.1:p.Pro387=
XM_005262822.2:c.1161C>G XP_005262879.1:p.Pro387=
XM_005262823.2:c.891C>G XP_005262880.1:p.Pro297=
XM_005262824.1:c.1161C>G XP_005262881.1:p.Pro387=
XM_006714137.1:c.1113C>G XP_006714200.1:p.Pro371=
XR_938706.1:n.1566C>G
XR_938707.1:n.1566C>G
XM_005262821.4:c.1161C>G XP_005262878.1:p.Pro387=
XM_005262822.4:c.1161C>G XP_005262879.1:p.Pro387=
XM_005262823.4:c.891C>G XP_005262880.1:p.Pro297=
XM_006714137.3:c.1113C>G XP_006714200.1:p.Pro371=
XM_017007884.2:c.*2130C>G XP_016863373.1:n.*2130C>G
XM_017007885.2:c.*26C>G XP_016863374.1:n.*26C>G
XR_001741172.2:n.1632C>G
NM_000128.4:c.1158C>G MANE Select NP_000119.1:p.Pro386=