Canonical Allele Identifier: CA402719516
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1177551304
gnomAD v2: 18-58039008-G-C
gnomAD v4: 18-60371775-G-C
MyVariant Identifiers: chr18:g.58039008G>C (hg19) chr18:g.60371775G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371775G>C , CM000680.2:g.60371775G>C GRCh38
NC_000018.9:g.58039008G>C , CM000680.1:g.58039008G>C GRCh37
NC_000018.8:g.56189988G>C NCBI36
NG_016441.1:g.5994C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.575C>G MANE Select ENSP00000299766.3:p.Ala192Gly
ENST00000299766.4:c.575C>G ENSP00000299766.3:p.Ala192Gly
NM_005912.2:c.575C>G NP_005903.2:p.Ala192Gly
NM_005912.3:c.575C>G MANE Select NP_005903.2:p.Ala192Gly
Search 100 bp 5'
Search 100 bp 3'