Canonical Allele Identifier: CA255220
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10329
ClinVar RCV Id: RCV000011042
dbSNP Id: rs387906465
MyVariant Identifiers: chrX:g.154088812_154088813del (hg19) chrX:g.154860537_154860538del (hg38)
PubMed: PMID:8307558
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860537_154860538del , CM000685.2:g.154860537_154860538del GRCh38
NC_000023.10:g.154088812_154088813del , CM000685.1:g.154088812_154088813del GRCh37
NC_000023.9:g.153742006_153742007del NCBI36
NG_011403.1:g.167186_167187del
NG_011403.2:g.167186_167187del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.6794_6795del MANE Select ENSP00000353393.4:p.Gln2265ArgfsTer?
ENST00000644698.1:c.527_528del ENSP00000495706.1:p.Gln176ArgfsTer?
ENST00000330287.10:c.389_390del ENSP00000327895.6:p.Gln130ArgfsTer?
ENST00000360256.8:c.6794_6795del ENSP00000353393.4:p.Gln2265ArgfsTer?
NM_000132.3:c.6794_6795del NP_000123.1:p.Gln2265ArgfsTer?
NM_019863.2:c.389_390del NP_063916.1:p.Gln130ArgfsTer?
XM_011531126.1:c.6689_6690del XP_011529428.1:p.Gln2230ArgfsTer?
NM_000132.4:c.6794_6795del MANE Select NP_000123.1:p.Gln2265ArgfsTer?
NM_019863.3:c.389_390del NP_063916.1:p.Gln130ArgfsTer?
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