Canonical Allele Identifier: CA357140406
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1343700582
gnomAD v3: 4-70642711-C-T
gnomAD v4: 4-70642711-C-T
COSMIC: COSM2830284
MyVariant Identifiers: chr4:g.71508428C>T (hg19) chr4:g.70642711C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642711C>T , CM000666.2:g.70642711C>T GRCh38
NC_000004.11:g.71508428C>T , CM000666.1:g.71508428C>T GRCh37
NC_000004.10:g.71727292C>T NCBI36
NG_013024.1:g.18968C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.1285C>T MANE Select ENSP00000379383.4:p.Arg429Cys
ENST00000396073.3:c.1285C>T ENSP00000379383.3:p.Arg429Cys
ENST00000472903.5:n.99+4868C>T
NM_031889.2:c.1285C>T NP_114095.2:p.Arg429Cys
XM_006714056.2:c.1285C>T XP_006714119.1:p.Arg429Cys
XM_006714056.4:c.1285C>T XP_006714119.1:p.Arg429Cys
NM_001368133.1:c.631C>T NP_001355062.1:p.Arg211Cys
NM_031889.3:c.1285C>T MANE Select NP_114095.2:p.Arg429Cys
Search 100 bp 5'
Search 100 bp 3'