Canonical Allele Identifier: CA343869
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 41001
ClinVar RCV Id: RCV000033894 RCV000249262 RCV002490452 RCV003103720
dbSNP Id: rs1800297
ExAC: X:154088838 T / C
gnomAD v2: X-154088838-T-C
gnomAD v3: X-154860563-T-C
gnomAD v4: X-154860563-T-C
COSMIC: COSM4985352 COSM4985353
MyVariant Identifiers: chrX:g.154088838T>C (hg19) chrX:g.154860563T>C (hg38)
ERepo: CA343869/MONDO:0010602/071
PubMed: PMID:17209060 PMID:20301578
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860563T>C , CM000685.2:g.154860563T>C GRCh38
NC_000023.10:g.154088838T>C , CM000685.1:g.154088838T>C GRCh37
NC_000023.9:g.153742032T>C NCBI36
NG_011403.1:g.167161A>G
NG_011403.2:g.167161A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6769A>G MANE Select ENSP00000353393.4:p.Met2257Val
ENST00000644698.1:c.502A>G ENSP00000495706.1:p.Met168Val
ENST00000330287.10:c.364A>G ENSP00000327895.6:p.Met122Val
ENST00000360256.8:c.6769A>G ENSP00000353393.4:p.Met2257Val
NM_000132.3:c.6769A>G NP_000123.1:p.Met2257Val
NM_019863.2:c.364A>G NP_063916.1:p.Met122Val
XM_011531126.1:c.6664A>G XP_011529428.1:p.Met2222Val
NM_000132.4:c.6769A>G MANE Select NP_000123.1:p.Met2257Val
NM_019863.3:c.364A>G NP_063916.1:p.Met122Val
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