Canonical Allele Identifier: CA10619127
Gene: ENAM HGNC NCBI

Linked Data

ClinVar Variation Id: 349513
ClinVar RCV Id: RCV000364783 RCV001653680
dbSNP Id: rs7664896
gnomAD v2: 4-71510836-C-G
gnomAD v3: 4-70645119-C-G
gnomAD v4: 4-70645119-C-G
MyVariant Identifiers: chr4:g.71510836C>G (hg19) chr4:g.70645119C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70645119C>G , CM000666.2:g.70645119C>G GRCh38
NC_000004.11:g.71510836C>G , CM000666.1:g.71510836C>G GRCh37
NC_000004.10:g.71729700C>G NCBI36
NG_013024.1:g.21376C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000396073.4:c.*264C>G MANE Select ENSP00000379383.4:n.*264C>G
ENST00000396073.3:c.*264C>G ENSP00000379383.3:n.*264C>G
ENST00000472903.5:n.99+7276C>G
NM_031889.2:c.*264C>G NP_114095.2:n.*264C>G
XM_006714056.2:c.*264C>G XP_006714119.1:n.*264C>G
XM_006714056.4:c.*264C>G XP_006714119.1:n.*264C>G
NM_001368133.1:c.*264C>G NP_001355062.1:n.*264C>G
NM_031889.3:c.*264C>G MANE Select NP_114095.2:n.*264C>G
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