Canonical Allele Identifier: CA10567922
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1685785
ClinVar RCV Id: RCV002249952
dbSNP Id: rs782510443
ExAC: X:154132203 C / T
gnomAD v2: X-154132203-C-T
gnomAD v3: X-154903928-C-T
gnomAD v4: X-154903928-C-T
MyVariant Identifiers: chrX:g.154132203C>T (hg19) chrX:g.154903928C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903928C>T , CM000685.2:g.154903928C>T GRCh38
NC_000023.10:g.154132203C>T , CM000685.1:g.154132203C>T GRCh37
NC_000023.9:g.153785397C>T NCBI36
NG_011403.1:g.123796G>A
NG_011403.2:g.123796G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5976G>A MANE Select ENSP00000353393.4:p.Met1992Ile
ENST00000360256.8:c.5976G>A ENSP00000353393.4:p.Met1992Ile
NM_000132.3:c.5976G>A NP_000123.1:p.Met1992Ile
XM_011531126.1:c.5871G>A XP_011529428.1:p.Met1957Ile
NM_000132.4:c.5976G>A MANE Select NP_000123.1:p.Met1992Ile
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