Canonical Allele Identifier: CA214751
Gene: MC4R HGNC NCBI
MyVariant.info:
GRCh38 chr18:g.60372245G>T
GRCh37 chr18:g.58039478G>T
gnomAD v2:
18:58039478 G / T
gnomAD v3:
18:60372245 G / T
gnomAD v4:
chr18-60372245-G-T
Joint Max Group AF 0.00007242 (NFE)
Genomes Max Group AF 0.00017077 (NFE)
Exomes Max Group AF 0.00006234 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372245G>T , CM000680.2:g.60372245G>T GRCh38
NC_000018.9:g.58039478G>T , CM000680.1:g.58039478G>T GRCh37
NC_000018.8:g.56190458G>T NCBI36
NG_016441.1:g.5524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.105C>A MANE Select ENSP00000299766.3:p.Tyr35Ter
ENST00000299766.4:c.105C>A ENSP00000299766.3:p.Tyr35Ter
NM_005912.2:c.105C>A NP_005903.2:p.Tyr35Ter
NM_005912.3:c.105C>A MANE Select NP_005903.2:p.Tyr35Ter
Search 100 bp 5'
Search 100 bp 3'