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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
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Canonical Allele Identifier:
CA414905428
Gene: F8
HGNC
NCBI
Linked Data
dbSNP Id:
rs2073022685
MyVariant Identifiers:
chrX:g.154132186T>C (hg19)
chrX:g.154903911T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154903911T>C , CM000685.2:g.154903911T>C
GRCh38
NC_000023.10:g.154132186T>C , CM000685.1:g.154132186T>C
GRCh37
NC_000023.9:g.153785380T>C
NCBI36
NG_011403.1:g.123813A>G
NG_011403.2:g.123813A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.5993A>G
MANE Select
ENSP00000353393.4:p.Tyr1998Cys
ENST00000360256.8:c.5993A>G
ENSP00000353393.4:p.Tyr1998Cys
NM_000132.3:c.5993A>G
NP_000123.1:p.Tyr1998Cys
XM_011531126.1:c.5888A>G
XP_011529428.1:p.Tyr1963Cys
NM_000132.4:c.5993A>G
MANE Select
NP_000123.1:p.Tyr1998Cys
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