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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:
CA358947253
Gene: CYP4V2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.187118101A>C (hg19)
chr4:g.186196947A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186196947A>C , CM000666.2:g.186196947A>C
GRCh38
NC_000004.11:g.187118101A>C , CM000666.1:g.187118101A>C
GRCh37
NC_000004.10:g.187355095A>C
NCBI36
NG_007965.1:g.10428A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000378802.5:c.421A>C
MANE Select
ENSP00000368079.4:p.Asn141His
ENST00000378802.4:c.421A>C
ENSP00000368079.4:p.Asn141His
ENST00000507209.5:n.860A>C
NM_207352.3:c.421A>C
NP_997235.3:p.Asn141His
XM_005262935.2:c.421A>C
XP_005262992.1:p.Asn141His
XM_006714184.2:c.25A>C
XP_006714247.1:p.Asn9His
XM_005262935.4:c.421A>C
XP_005262992.1:p.Asn141His
XM_017008037.1:c.25A>C
XP_016863526.1:p.Asn9His
NM_207352.4:c.421A>C
MANE Select
NP_997235.3:p.Asn141His
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