Canonical Allele Identifier: CA414915142
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2920965
ClinVar RCV Id: RCV003736492
dbSNP Id: rs1258333672
MyVariant Identifiers: chrX:g.154194376T>A (hg19) chrX:g.154966101T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966101T>A , CM000685.2:g.154966101T>A GRCh38
NC_000023.10:g.154194376T>A , CM000685.1:g.154194376T>A GRCh37
NC_000023.9:g.153847570T>A NCBI36
NG_011403.1:g.61623A>T
NG_011403.2:g.61623A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1312A>T MANE Select ENSP00000353393.4:p.Ile438Phe
ENST00000647125.1:c.*1188A>T ENSP00000496062.1:n.*1188A>T
ENST00000360256.8:c.1312A>T ENSP00000353393.4:p.Ile438Phe
ENST00000483822.2:n.132A>T
NM_000132.3:c.1312A>T NP_000123.1:p.Ile438Phe
XM_011531126.1:c.1207A>T XP_011529428.1:p.Ile403Phe
NM_000132.4:c.1312A>T MANE Select NP_000123.1:p.Ile438Phe
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