Canonical Allele Identifier: CA1139771367
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1698775
ClinVar RCV Id: RCV002272632
dbSNP Id: rs2124046974
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928640_154928641del , CM000685.2:g.154928640_154928641del GRCh38
NC_000023.10:g.154156915_154156916del , CM000685.1:g.154156915_154156916del GRCh37
NC_000023.9:g.153810109_153810110del NCBI36
NG_011403.1:g.99084_99085del
NG_011403.2:g.99084_99085del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5150_5151del MANE Select ENSP00000353393.4:p.Tyr1717PhefsTer15
ENST00000360256.8:c.5150_5151del ENSP00000353393.4:p.Tyr1717PhefsTer15
NM_000132.3:c.5150_5151del NP_000123.1:p.Tyr1717PhefsTer15
XM_011531126.1:c.5045_5046del XP_011529428.1:p.Tyr1682PhefsTer15
NM_000132.4:c.5150_5151del MANE Select NP_000123.1:p.Tyr1717PhefsTer15
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