×
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:
CA358947000
Gene: CYP4V2
HGNC
NCBI
Linked Data
COSMIC:
COSM5819202
MyVariant Identifiers:
chr4:g.187115750A>C (hg19)
chr4:g.186194596A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.186194596A>C , CM000666.2:g.186194596A>C
GRCh38
NC_000004.11:g.187115750A>C , CM000666.1:g.187115750A>C
GRCh37
NC_000004.10:g.187352744A>C
NCBI36
NG_007965.1:g.8077A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000378802.5:c.311A>C
MANE Select
ENSP00000368079.4:p.Asn104Thr
ENST00000378802.4:c.311A>C
ENSP00000368079.4:p.Asn104Thr
NM_207352.3:c.311A>C
NP_997235.3:p.Asn104Thr
XM_005262935.2:c.311A>C
XP_005262992.1:p.Asn104Thr
XM_006714184.2:c.1A>C
XP_006714247.1:p.Met1Leu
XM_005262935.4:c.311A>C
XP_005262992.1:p.Asn104Thr
XM_017008037.1:c.1A>C
XP_016863526.1:p.Met1Leu
NM_207352.4:c.311A>C
MANE Select
NP_997235.3:p.Asn104Thr
Search 100 bp 5'
Search 100 bp 3'