Canonical Allele Identifier: CA414917789
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs868933231
gnomAD v4: X-154969388-G-A
MyVariant Identifiers: chrX:g.154197663G>A (hg19) chrX:g.154969388G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969388G>A , CM000685.2:g.154969388G>A GRCh38
NC_000023.10:g.154197663G>A , CM000685.1:g.154197663G>A GRCh37
NC_000023.9:g.153850857G>A NCBI36
NG_011403.1:g.58336C>T
NG_011403.2:g.58336C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.952C>T MANE Select ENSP00000353393.4:p.Leu318Phe
ENST00000647125.1:c.*828C>T ENSP00000496062.1:n.*828C>T
ENST00000360256.8:c.952C>T ENSP00000353393.4:p.Leu318Phe
NM_000132.3:c.952C>T NP_000123.1:p.Leu318Phe
XM_011531126.1:c.847C>T XP_011529428.1:p.Leu283Phe
NM_000132.4:c.952C>T MANE Select NP_000123.1:p.Leu318Phe
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