×
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:
CA414904513
Gene: F8
HGNC
NCBI
Linked Data
dbSNP Id:
rs1557275982
gnomAD v2:
X-154130332-T-C
gnomAD v4:
X-154902057-T-C
MyVariant Identifiers:
chrX:g.154130332T>C (hg19)
chrX:g.154902057T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.154902057T>C , CM000685.2:g.154902057T>C
GRCh38
NC_000023.10:g.154130332T>C , CM000685.1:g.154130332T>C
GRCh37
NC_000023.9:g.153783526T>C
NCBI36
NG_011403.1:g.125667A>G
NG_011403.2:g.125667A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000360256.9:c.6109A>G
MANE Select
ENSP00000353393.4:p.Ser2037Gly
ENST00000360256.8:c.6109A>G
ENSP00000353393.4:p.Ser2037Gly
NM_000132.3:c.6109A>G
NP_000123.1:p.Ser2037Gly
XM_011531126.1:c.6004A>G
XP_011529428.1:p.Ser2002Gly
NM_000132.4:c.6109A>G
MANE Select
NP_000123.1:p.Ser2037Gly
Search 100 bp 5'
Search 100 bp 3'