Canonical Allele Identifier: CA367016175
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117238-C-A
MyVariant Identifiers: chr7:g.19156861C>A (hg19) chr7:g.19117238C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117238C>A , CM000669.2:g.19117238C>A GRCh38
NC_000007.13:g.19156861C>A , CM000669.1:g.19156861C>A GRCh37
NC_000007.12:g.19123386C>A NCBI36
NG_008114.1:g.5435G>T
NG_008114.2:g.5435G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.84G>T MANE Select ENSP00000242261.5:p.Gln28His
ENST00000242261.5:c.84G>T ENSP00000242261.5:p.Gln28His
NM_000474.3:c.84G>T NP_000465.1:p.Gln28His
XM_011515496.1:c.84G>T XP_011513798.1:p.Gln28His
NR_149001.1:n.435G>T
NM_000474.4:c.84G>T MANE Select NP_000465.1:p.Gln28His
NR_149001.2:n.399G>T
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