Canonical Allele Identifier: CA10568430
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 439678
ClinVar RCV Id: RCV003147490 RCV003103798
dbSNP Id: rs782733685
ExAC: X:154185415 C / A
gnomAD v2: X-154185415-C-A
gnomAD v4: X-154957140-C-A
MyVariant Identifiers: chrX:g.154185415C>A (hg19) chrX:g.154957140C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957140C>A , CM000685.2:g.154957140C>A GRCh38
NC_000023.10:g.154185415C>A , CM000685.1:g.154185415C>A GRCh37
NC_000023.9:g.153838609C>A NCBI36
NG_011403.1:g.70584G>T
NG_011403.2:g.70584G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1569G>T MANE Select ENSP00000353393.4:p.Leu523=
ENST00000647125.1:c.*1445G>T ENSP00000496062.1:n.*1445G>T
ENST00000360256.8:c.1569G>T ENSP00000353393.4:p.Leu523=
NM_000132.3:c.1569G>T NP_000123.1:p.Leu523=
XM_011531126.1:c.1464G>T XP_011529428.1:p.Leu488=
NM_000132.4:c.1569G>T MANE Select NP_000123.1:p.Leu523=
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