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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:
CA414913917
Gene: F8
HGNC
NCBI
Linked Data
gnomAD v4:
X-154928686-C-T
COSMIC:
COSM3559863
COSM3559864
MyVariant Identifiers:
chrX:g.154156961C>T (hg19)
chrX:g.154928686C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154928686C>T , CM000685.2:g.154928686C>T
GRCh38
NC_000023.10:g.154156961C>T , CM000685.1:g.154156961C>T
GRCh37
NC_000023.9:g.153810155C>T
NCBI36
NG_011403.1:g.99038G>A
NG_011403.2:g.99038G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360256.9:c.5104G>A
MANE Select
ENSP00000353393.4:p.Asp1702Asn
ENST00000360256.8:c.5104G>A
ENSP00000353393.4:p.Asp1702Asn
NM_000132.3:c.5104G>A
NP_000123.1:p.Asp1702Asn
XM_011531126.1:c.4999G>A
XP_011529428.1:p.Asp1667Asn
NM_000132.4:c.5104G>A
MANE Select
NP_000123.1:p.Asp1702Asn
Search 100 bp 5'
Search 100 bp 3'