Canonical Allele Identifier: CA402718639
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1284421361
gnomAD v2: 18-58038588-T-C
gnomAD v3: 18-60371355-T-C
gnomAD v4: 18-60371355-T-C
MyVariant Identifiers: chr18:g.58038588T>C (hg19) chr18:g.60371355T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371355T>C , CM000680.2:g.60371355T>C GRCh38
NC_000018.9:g.58038588T>C , CM000680.1:g.58038588T>C GRCh37
NC_000018.8:g.56189568T>C NCBI36
NG_016441.1:g.6414A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.995A>G MANE Select ENSP00000299766.3:p.Tyr332Cys
ENST00000299766.4:c.995A>G ENSP00000299766.3:p.Tyr332Cys
NM_005912.2:c.995A>G NP_005903.2:p.Tyr332Cys
NM_005912.3:c.995A>G MANE Select NP_005903.2:p.Tyr332Cys
Search 100 bp 5'
Search 100 bp 3'