Canonical Allele Identifier: CA552275447
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs1408509498
gnomAD v2: 4-71494571-C-T
gnomAD v3: 4-70628854-C-T
gnomAD v4: 4-70628854-C-T
MyVariant Identifiers: chr4:g.71494571C>T (hg19) chr4:g.70628854C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70628854C>T , CM000666.2:g.70628854C>T GRCh38
NC_000004.11:g.71494571C>T , CM000666.1:g.71494571C>T GRCh37
NG_013024.1:g.5111C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000396073.4:c.-171C>T MANE Select ENSP00000379383.4:n.-171C>T
ENST00000396073.3:c.-171C>T ENSP00000379383.3:n.-171C>T
NM_031889.2:c.-171C>T NP_114095.2:n.-171C>T
XM_006714056.4:c.-647C>T XP_006714119.1:n.-647C>T
NM_031889.3:c.-171C>T MANE Select NP_114095.2:n.-171C>T
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