Canonical Allele Identifier: CA836363435
Gene: TWIST1 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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