Canonical Allele Identifier: CA414909238
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1330638
ClinVar RCV Id: RCV001802297
dbSNP Id: rs1384374956
gnomAD v4: X-154947763-T-C
MyVariant Identifiers: chrX:g.154176038T>C (hg19) chrX:g.154947763T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154947763T>C , CM000685.2:g.154947763T>C GRCh38
NC_000023.10:g.154176038T>C , CM000685.1:g.154176038T>C GRCh37
NC_000023.9:g.153829232T>C NCBI36
NG_011403.1:g.79961A>G
NG_011403.2:g.79961A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.2048A>G MANE Select ENSP00000353393.4:p.Tyr683Cys
ENST00000647125.1:c.*1779+6129A>G ENSP00000496062.1:n.*1779+6129A>G
ENST00000360256.8:c.2048A>G ENSP00000353393.4:p.Tyr683Cys
NM_000132.3:c.2048A>G NP_000123.1:p.Tyr683Cys
XM_011531126.1:c.1943A>G XP_011529428.1:p.Tyr648Cys
NM_000132.4:c.2048A>G MANE Select NP_000123.1:p.Tyr683Cys
Search 100 bp 5'
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