×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA10568417
Gene: F8
HGNC
NCBI
Linked Data
dbSNP Id:
rs368808810
ExAC:
X:154185266 C / T
MyVariant Identifiers:
chrX:g.154185266C>T (hg19)
chrX:g.154956991C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154956991C>T , CM000685.2:g.154956991C>T
GRCh38
NC_000023.10:g.154185266C>T , CM000685.1:g.154185266C>T
GRCh37
NC_000023.9:g.153838460C>T
NCBI36
NG_011403.1:g.70733G>A
NG_011403.2:g.70733G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.1718G>A
MANE Select
ENSP00000353393.4:p.Cys573Tyr
ENST00000647125.1:c.*1594G>A
ENSP00000496062.1:n.*1594G>A
ENST00000360256.8:c.1718G>A
ENSP00000353393.4:p.Cys573Tyr
NM_000132.3:c.1718G>A
NP_000123.1:p.Cys573Tyr
XM_011531126.1:c.1613G>A
XP_011529428.1:p.Cys538Tyr
NM_000132.4:c.1718G>A
MANE Select
NP_000123.1:p.Cys573Tyr
Search 100 bp 5'
Search 100 bp 3'