Canonical Allele Identifier: CA1692251670
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788600837
gnomAD v4: 7-19117435-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117435G>A , CM000669.2:g.19117435G>A GRCh38
NC_000007.13:g.19157058G>A , CM000669.1:g.19157058G>A GRCh37
NC_000007.12:g.19123583G>A NCBI36
NG_008114.1:g.5238C>T
NG_008114.2:g.5238C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-114C>T MANE Select ENSP00000242261.5:n.-114C>T
ENST00000242261.5:c.-114C>T ENSP00000242261.5:n.-114C>T
NM_000474.3:c.-114C>T NP_000465.1:n.-114C>T
NR_149001.1:n.238C>T
NM_000474.4:c.-114C>T MANE Select NP_000465.1:n.-114C>T
NR_149001.2:n.202C>T
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