Canonical Allele Identifier: CA402719345
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 890920
ClinVar RCV Id: RCV001125887
dbSNP Id: rs1915344558
gnomAD v4: 18-60371695-C-A
MyVariant Identifiers: chr18:g.58038928C>A (hg19) chr18:g.60371695C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371695C>A , CM000680.2:g.60371695C>A GRCh38
NC_000018.9:g.58038928C>A , CM000680.1:g.58038928C>A GRCh37
NC_000018.8:g.56189908C>A NCBI36
NG_016441.1:g.6074G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.655G>T MANE Select ENSP00000299766.3:p.Ala219Ser
ENST00000299766.4:c.655G>T ENSP00000299766.3:p.Ala219Ser
NM_005912.2:c.655G>T NP_005903.2:p.Ala219Ser
NM_005912.3:c.655G>T MANE Select NP_005903.2:p.Ala219Ser
Search 100 bp 5'
Search 100 bp 3'