Canonical Allele Identifier: CA255383
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 10608
ClinVar RCV Id: RCV000011354
dbSNP Id: rs137852255

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561743T>C , CM000685.2:g.139561743T>C GRCh38
NC_000023.10:g.138643902T>C , CM000685.1:g.138643902T>C GRCh37
NC_000023.9:g.138471568T>C NCBI36
NG_007994.1:g.36008T>C , LRG_556:g.36008T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000218099.7:c.1058T>C MANE Select ENSP00000218099.2:p.Val353Ala
ENST00000643157.1:n.1723+2T>C
ENST00000218099.6:c.1058T>C ENSP00000218099.2:p.Val353Ala
ENST00000394090.2:c.944T>C ENSP00000377650.2:p.Val315Ala
NM_000133.3:c.1058T>C , LRG_556t1:c.1058T>C NP_000124.1:p.Val353Ala
NM_001313913.1:c.944T>C NP_001300842.1:p.Val315Ala
XM_005262397.3:c.929T>C XP_005262454.1:p.Val310Ala
XM_005262397.4:c.929T>C XP_005262454.1:p.Val310Ala
NM_000133.4:c.1058T>C MANE Select NP_000124.1:p.Val353Ala
NM_001313913.2:c.944T>C NP_001300842.1:p.Val315Ala