Canonical Allele Identifier: CA255334
Gene: F9 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.139548450G>C
GRCh37 chrX:g.138630609G>C
Revel Score:
ENST00000218099 (MANE Select) 0.958
ENST00000394090 0.958
ClinVar Allele:
25620
ClinVar RCV:
RCV000011327
ClinVar Variation:
10581
dbSNP:
137852235
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139548450G>C , CM000685.2:g.139548450G>C GRCh38
NC_000023.10:g.138630609G>C , CM000685.1:g.138630609G>C GRCh37
NC_000023.9:g.138458275G>C NCBI36
NG_007994.1:g.22715G>C , LRG_556:g.22715G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.479G>C MANE Select ENSP00000218099.2:p.Gly160Ala
ENST00000643157.1:n.1146G>C
ENST00000218099.6:c.479G>C ENSP00000218099.2:p.Gly160Ala
ENST00000394090.2:c.365G>C ENSP00000377650.2:p.Gly122Ala
NM_000133.3:c.479G>C , LRG_556t1:c.479G>C NP_000124.1:p.Gly160Ala
NM_001313913.1:c.365G>C NP_001300842.1:p.Gly122Ala
XM_005262397.3:c.392-2612G>C XP_005262454.1:n.392-2612G>C
XM_005262397.4:c.392-2612G>C XP_005262454.1:n.392-2612G>C
NM_000133.4:c.479G>C MANE Select NP_000124.1:p.Gly160Ala
NM_001313913.2:c.365G>C NP_001300842.1:p.Gly122Ala
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