Canonical Allele Identifier: CA155466667
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1197166
ClinVar RCV Id: RCV001560897
dbSNP Id: rs377717796
gnomAD v2: 7-19157069-A-C
gnomAD v3: 7-19117446-A-C
gnomAD v4: 7-19117446-A-C
MyVariant Identifiers: chr7:g.19157069A>C (hg19) chr7:g.19117446A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117446A>C , CM000669.2:g.19117446A>C GRCh38
NC_000007.13:g.19157069A>C , CM000669.1:g.19157069A>C GRCh37
NC_000007.12:g.19123594A>C NCBI36
NG_008114.1:g.5227T>G
NG_008114.2:g.5227T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-125T>G MANE Select ENSP00000242261.5:n.-125T>G
ENST00000242261.5:c.-125T>G ENSP00000242261.5:n.-125T>G
NM_000474.3:c.-125T>G NP_000465.1:n.-125T>G
NR_149001.1:n.227T>G
NM_000474.4:c.-125T>G MANE Select NP_000465.1:n.-125T>G
NR_149001.2:n.191T>G
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