Canonical Allele Identifier: CA116730
Gene: ENAM HGNC NCBI

Linked Data

ClinVar Variation Id: 4236
ClinVar RCV Id: RCV000004458
dbSNP Id: rs587776587
MyVariant Identifiers: chr4:g.71501612G>A (hg19) chr4:g.70635895G>A (hg38)
PubMed: PMID:11487571 PMID:22414746
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70635895G>A , CM000666.2:g.70635895G>A GRCh38
NC_000004.11:g.71501612G>A , CM000666.1:g.71501612G>A GRCh37
NG_013024.1:g.12152G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.534+1G>A MANE Select ENSP00000379383.4:n.534+1G>A
ENST00000396073.3:c.534+1G>A ENSP00000379383.3:n.534+1G>A
NM_031889.2:c.534+1G>A NP_114095.2:n.534+1G>A
XM_006714056.2:c.534+1G>A XP_006714119.1:n.534+1G>A
XM_006714056.4:c.534+1G>A XP_006714119.1:n.534+1G>A
NM_031889.3:c.534+1G>A MANE Select NP_114095.2:n.534+1G>A
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