Canonical Allele Identifier: CA414912104
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 439676
ClinVar RCV Id: RCV000507038
dbSNP Id: rs1557281265
MyVariant Identifiers: chrX:g.154185395T>C (hg19) chrX:g.154957120T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957120T>C , CM000685.2:g.154957120T>C GRCh38
NC_000023.10:g.154185395T>C , CM000685.1:g.154185395T>C GRCh37
NC_000023.9:g.153838589T>C NCBI36
NG_011403.1:g.70604A>G
NG_011403.2:g.70604A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1589A>G MANE Select ENSP00000353393.4:p.Tyr530Cys
ENST00000647125.1:c.*1465A>G ENSP00000496062.1:n.*1465A>G
ENST00000360256.8:c.1589A>G ENSP00000353393.4:p.Tyr530Cys
NM_000132.3:c.1589A>G NP_000123.1:p.Tyr530Cys
XM_011531126.1:c.1484A>G XP_011529428.1:p.Tyr495Cys
NM_000132.4:c.1589A>G MANE Select NP_000123.1:p.Tyr530Cys
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