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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:
CA118868
Gene: FGF10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7531
ClinVar RCV Id:
RCV003151710
dbSNP Id:
rs104893885
MyVariant Identifiers:
chr5:g.44388468C>A (hg19)
chr5:g.44388366C>A (hg38)
PubMed:
PMID:15654336
PMID:16501574
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.44388366C>A , CM000667.2:g.44388366C>A
GRCh38
NC_000005.9:g.44388468C>A , CM000667.1:g.44388468C>A
GRCh37
NC_000005.8:g.44424225C>A
NCBI36
NG_011446.1:g.5317G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264664.5:c.317G>T
MANE Select
ENSP00000264664.4:p.Cys106Phe
ENST00000264664.4:c.317G>T
ENSP00000264664.4:p.Cys106Phe
NM_004465.1:c.317G>T
NP_004456.1:p.Cys106Phe
XM_005248264.2:c.317G>T
XP_005248321.1:p.Cys106Phe
XM_005248264.4:c.317G>T
XP_005248321.1:p.Cys106Phe
NM_004465.2:c.317G>T
MANE Select
NP_004456.1:p.Cys106Phe
Search 100 bp 5'
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