Canonical Allele Identifier: CA797999065
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1184108112
gnomAD v3: 4-70628947-G-T
gnomAD v4: 4-70628947-G-T
MyVariant Identifiers: chr4:g.71494664G>T (hg19) chr4:g.70628947G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628947G>T , CM000666.2:g.70628947G>T GRCh38
NC_000004.11:g.71494664G>T , CM000666.1:g.71494664G>T GRCh37
NG_013024.1:g.5204G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.-78G>T MANE Select ENSP00000379383.4:n.-78G>T
ENST00000396073.3:c.-78G>T ENSP00000379383.3:n.-78G>T
NM_031889.2:c.-78G>T NP_114095.2:n.-78G>T
XM_006714056.2:c.-554G>T XP_006714119.1:n.-554G>T
XM_006714056.4:c.-554G>T XP_006714119.1:n.-554G>T
NM_031889.3:c.-78G>T MANE Select NP_114095.2:n.-78G>T
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