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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:
CA358946904
Gene: CYP4V2
HGNC
NCBI
Linked Data
gnomAD v4:
4-186194548-C-A
MyVariant Identifiers:
chr4:g.187115702C>A (hg19)
chr4:g.186194548C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186194548C>A , CM000666.2:g.186194548C>A
GRCh38
NC_000004.11:g.187115702C>A , CM000666.1:g.187115702C>A
GRCh37
NC_000004.10:g.187352696C>A
NCBI36
NG_007965.1:g.8029C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000378802.5:c.263C>A
MANE Select
ENSP00000368079.4:p.Pro88Gln
ENST00000378802.4:c.263C>A
ENSP00000368079.4:p.Pro88Gln
NM_207352.3:c.263C>A
NP_997235.3:p.Pro88Gln
XM_005262935.2:c.263C>A
XP_005262992.1:p.Pro88Gln
XM_006714184.2:c.-48C>A
XP_006714247.1:n.-48C>A
XM_005262935.4:c.263C>A
XP_005262992.1:p.Pro88Gln
XM_017008037.1:c.-48C>A
XP_016863526.1:n.-48C>A
NM_207352.4:c.263C>A
MANE Select
NP_997235.3:p.Pro88Gln
Search 100 bp 5'
Search 100 bp 3'