Canonical Allele Identifier: CA414439368
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1459949
ClinVar RCV Id: RCV001982942
dbSNP Id: rs2148361240

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139548470C>T , CM000685.2:g.139548470C>T GRCh38
NC_000023.10:g.138630629C>T , CM000685.1:g.138630629C>T GRCh37
NC_000023.9:g.138458295C>T NCBI36
NG_007994.1:g.22735C>T , LRG_556:g.22735C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000218099.7:c.499C>T MANE Select ENSP00000218099.2:p.Gln167Ter
ENST00000643157.1:n.1166C>T
ENST00000218099.6:c.499C>T ENSP00000218099.2:p.Gln167Ter
ENST00000394090.2:c.385C>T ENSP00000377650.2:p.Gln129Ter
NM_000133.3:c.499C>T , LRG_556t1:c.499C>T NP_000124.1:p.Gln167Ter
NM_001313913.1:c.385C>T NP_001300842.1:p.Gln129Ter
XM_005262397.3:c.392-2592C>T XP_005262454.1:n.392-2592C>T
XM_005262397.4:c.392-2592C>T XP_005262454.1:n.392-2592C>T
NM_000133.4:c.499C>T MANE Select NP_000124.1:p.Gln167Ter
NM_001313913.2:c.385C>T NP_001300842.1:p.Gln129Ter