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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:
CA8980910
Gene: MC4R
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1284736
ClinVar RCV Id:
RCV001700559
RCV001823788
RCV003416408
RCV004017856
dbSNP Id:
rs13447332
ExAC:
18:58039090 G / A
gnomAD v2:
18-58039090-G-A
gnomAD v3:
18-60371857-G-A
gnomAD v4:
18-60371857-G-A
COSMIC:
COSM4420049
MyVariant Identifiers:
chr18:g.58039090G>A (hg19)
chr18:g.60371857G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60371857G>A , CM000680.2:g.60371857G>A
GRCh38
NC_000018.9:g.58039090G>A , CM000680.1:g.58039090G>A
GRCh37
NC_000018.8:g.56190070G>A
NCBI36
NG_016441.1:g.5912C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299766.5:c.493C>T
MANE Select
ENSP00000299766.3:p.Arg165Trp
ENST00000299766.4:c.493C>T
ENSP00000299766.3:p.Arg165Trp
NM_005912.2:c.493C>T
NP_005903.2:p.Arg165Trp
NM_005912.3:c.493C>T
MANE Select
NP_005903.2:p.Arg165Trp
Search 100 bp 5'
Search 100 bp 3'