Canonical Allele Identifier: CA519356474
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs2073314183
COSMIC: COSM1118266 COSM1118267
MyVariant Identifiers: chrX:g.154176040G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947765G>A , CM000685.2:g.154947765G>A GRCh38
NC_000023.10:g.154176040G>A , CM000685.1:g.154176040G>A GRCh37
NC_000023.9:g.153829234G>A NCBI36
NG_011403.1:g.79959C>T
NG_011403.2:g.79959C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2046C>T MANE Select ENSP00000353393.4:p.Val682=
ENST00000647125.1:c.*1779+6127C>T ENSP00000496062.1:n.*1779+6127C>T
ENST00000360256.8:c.2046C>T ENSP00000353393.4:p.Val682=
NM_000132.3:c.2046C>T NP_000123.1:p.Val682=
XM_011531126.1:c.1941C>T XP_011529428.1:p.Val647=
NM_000132.4:c.2046C>T MANE Select NP_000123.1:p.Val682=
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