Canonical Allele Identifier: CA301529998

Gene: MC4R

Linked Data

• dbSNP Id: rs990022274
• gnomAD v3: 18-60371330-T-C
• gnomAD v4: 18-60371330-T-C
• MyVariant Identifiers: chr18:g.58038563T>C (hg19) ; chr18:g.60371330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371330T>C , CM000680.2:g.60371330T>C	GRCh38
NC_000018.9:g.58038563T>C , CM000680.1:g.58038563T>C	GRCh37
NC_000018.8:g.56189543T>C	NCBI36
NG_016441.1:g.6439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.*21A>G MANE Select	ENSP00000299766.3:n.*21A>G
ENST00000299766.4:c.*21A>G	ENSP00000299766.3:n.*21A>G
NM_005912.3:c.*21A>G MANE Select	NP_005903.2:n.*21A>G