Canonical Allele Identifier: CA155466660
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs548571073
gnomAD v2: 7-19157046-A-T
gnomAD v3: 7-19117423-A-T
gnomAD v4: 7-19117423-A-T
MyVariant Identifiers: chr7:g.19157046A>T (hg19) chr7:g.19117423A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117423A>T , CM000669.2:g.19117423A>T GRCh38
NC_000007.13:g.19157046A>T , CM000669.1:g.19157046A>T GRCh37
NC_000007.12:g.19123571A>T NCBI36
NG_008114.1:g.5250T>A
NG_008114.2:g.5250T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-102T>A MANE Select ENSP00000242261.5:n.-102T>A
ENST00000242261.5:c.-102T>A ENSP00000242261.5:n.-102T>A
NM_000474.3:c.-102T>A NP_000465.1:n.-102T>A
NR_149001.1:n.250T>A
NM_000474.4:c.-102T>A MANE Select NP_000465.1:n.-102T>A
NR_149001.2:n.214T>A
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