Canonical Allele Identifier: CA2952103
Gene: ENAM HGNC NCBI

Linked Data

dbSNP Id: rs375758699
ExAC: 4:71508429 G / T
gnomAD v2: 4-71508429-G-T
gnomAD v3: 4-70642712-G-T
gnomAD v4: 4-70642712-G-T
MyVariant Identifiers: chr4:g.71508429G>T (hg19) chr4:g.70642712G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.70642712G>T , CM000666.2:g.70642712G>T GRCh38
NC_000004.11:g.71508429G>T , CM000666.1:g.71508429G>T GRCh37
NC_000004.10:g.71727293G>T NCBI36
NG_013024.1:g.18969G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396073.4:c.1286G>T MANE Select ENSP00000379383.4:p.Arg429Leu
ENST00000396073.3:c.1286G>T ENSP00000379383.3:p.Arg429Leu
ENST00000472903.5:n.99+4869G>T
NM_031889.2:c.1286G>T NP_114095.2:p.Arg429Leu
XM_006714056.2:c.1286G>T XP_006714119.1:p.Arg429Leu
XM_006714056.4:c.1286G>T XP_006714119.1:p.Arg429Leu
NM_001368133.1:c.632G>T NP_001355062.1:p.Arg211Leu
NM_031889.3:c.1286G>T MANE Select NP_114095.2:p.Arg429Leu
Search 100 bp 5'
Search 100 bp 3'