×
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:
CA414901700
Gene: F8
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.154159630A>C (hg19)
chrX:g.154931355A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154931355A>C , CM000685.2:g.154931355A>C
GRCh38
NC_000023.10:g.154159630A>C , CM000685.1:g.154159630A>C
GRCh37
NC_000023.9:g.153812824A>C
NCBI36
NG_011403.1:g.96369T>G
NG_011403.2:g.96369T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000360256.9:c.2435T>G
MANE Select
ENSP00000353393.4:p.Leu812Arg
ENST00000647125.1:c.*2101T>G
ENSP00000496062.1:n.*2101T>G
ENST00000360256.8:c.2435T>G
ENSP00000353393.4:p.Leu812Arg
NM_000132.3:c.2435T>G
NP_000123.1:p.Leu812Arg
XM_011531126.1:c.2330T>G
XP_011529428.1:p.Leu777Arg
NM_000132.4:c.2435T>G
MANE Select
NP_000123.1:p.Leu812Arg
Search 100 bp 5'
Search 100 bp 3'