Canonical Allele Identifier: CA155466663
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs530965063
gnomAD v2: 7-19157054-C-A
gnomAD v3: 7-19117431-C-A
gnomAD v4: 7-19117431-C-A
MyVariant Identifiers: chr7:g.19157054C>A (hg19) chr7:g.19117431C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117431C>A , CM000669.2:g.19117431C>A GRCh38
NC_000007.13:g.19157054C>A , CM000669.1:g.19157054C>A GRCh37
NC_000007.12:g.19123579C>A NCBI36
NG_008114.1:g.5242G>T
NG_008114.2:g.5242G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-110G>T MANE Select ENSP00000242261.5:n.-110G>T
ENST00000242261.5:c.-110G>T ENSP00000242261.5:n.-110G>T
NM_000474.3:c.-110G>T NP_000465.1:n.-110G>T
NR_149001.1:n.242G>T
NM_000474.4:c.-110G>T MANE Select NP_000465.1:n.-110G>T
NR_149001.2:n.206G>T
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