Canonical Allele Identifier: CA357140404
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1343700582
gnomAD v2: 4-71508428-C-G
gnomAD v3: 4-70642711-C-G
gnomAD v4: 4-70642711-C-G
MyVariant Identifiers: chr4:g.71508428C>G (hg19) chr4:g.70642711C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.1285C>G MANE Select ENSP00000379383.4:p.Arg429Gly
ENST00000396073.3:c.1285C>G ENSP00000379383.3:p.Arg429Gly
ENST00000472903.5:n.99+4868C>G
NM_031889.2:c.1285C>G NP_114095.2:p.Arg429Gly
XM_006714056.2:c.1285C>G XP_006714119.1:p.Arg429Gly
XM_006714056.4:c.1285C>G XP_006714119.1:p.Arg429Gly
NM_001368133.1:c.631C>G NP_001355062.1:p.Arg211Gly
NM_031889.3:c.1285C>G MANE Select NP_114095.2:p.Arg429Gly
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Search 100 bp 3'