Canonical Allele Identifier: CA519719977
Gene: F8 HGNC NCBI

Linked Data

dbSNP Id: rs1241906272
gnomAD v2: X-154159752-C-T
gnomAD v3: X-154931477-C-T
gnomAD v4: X-154931477-C-T
MyVariant Identifiers: chrX:g.154159752C>T (hg19) chrX:g.154931477C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154931477C>T , CM000685.2:g.154931477C>T GRCh38
NC_000023.10:g.154159752C>T , CM000685.1:g.154159752C>T GRCh37
NC_000023.9:g.153812946C>T NCBI36
NG_011403.1:g.96247G>A
NG_011403.2:g.96247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.2313G>A MANE Select ENSP00000353393.4:p.Arg771=
ENST00000647125.1:c.*1979G>A ENSP00000496062.1:n.*1979G>A
ENST00000360256.8:c.2313G>A ENSP00000353393.4:p.Arg771=
NM_000132.3:c.2313G>A NP_000123.1:p.Arg771=
XM_011531126.1:c.2208G>A XP_011529428.1:p.Arg736=
NM_000132.4:c.2313G>A MANE Select NP_000123.1:p.Arg771=
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