Canonical Allele Identifier: CA16042420
Gene: MYCN HGNC NCBI

Linked Data

ClinVar Variation Id: 372422
ClinVar RCV Id: RCV000414637
dbSNP Id: rs1057517770
gnomAD v3: 2-15945894-C-T
gnomAD v4: 2-15945894-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945894C>T , CM000664.2:g.15945894C>T GRCh38
NC_000002.11:g.16086016C>T , CM000664.1:g.16086016C>T GRCh37
NC_000002.10:g.16003467C>T NCBI36
NG_007457.1:g.10334C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000703162.1:n.541C>T
ENST00000281043.4:c.1192C>T MANE Select ENSP00000281043.3:p.Arg398Trp
ENST00000638417.1:c.559C>T ENSP00000491476.1:p.Arg187Trp
ENST00000281043.3:c.1192C>T ENSP00000281043.3:p.Arg398Trp
NM_001293228.1:c.1192C>T NP_001280157.1:p.Arg398Trp
NM_001293231.1:c.559C>T NP_001280160.1:p.Arg187Trp
NM_001293233.1:c.*1127C>T NP_001280162.1:n.*1127C>T
NM_005378.5:c.1192C>T NP_005369.2:p.Arg398Trp
NM_005378.6:c.1192C>T MANE Select NP_005369.2:p.Arg398Trp
NM_001293228.2:c.1192C>T NP_001280157.1:p.Arg398Trp
NM_001293231.2:c.559C>T NP_001280160.1:p.Arg187Trp
NM_001293233.2:c.*1127C>T NP_001280162.1:n.*1127C>T