Canonical Allele Identifier: CA836363440
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1290107318
gnomAD v3: 7-19117426-C-G
gnomAD v4: 7-19117426-C-G
MyVariant Identifiers: chr7:g.19157049C>G (hg19) chr7:g.19117426C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117426C>G , CM000669.2:g.19117426C>G GRCh38
NC_000007.13:g.19157049C>G , CM000669.1:g.19157049C>G GRCh37
NC_000007.12:g.19123574C>G NCBI36
NG_008114.1:g.5247G>C
NG_008114.2:g.5247G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-105G>C MANE Select ENSP00000242261.5:n.-105G>C
ENST00000242261.5:c.-105G>C ENSP00000242261.5:n.-105G>C
NM_000474.3:c.-105G>C NP_000465.1:n.-105G>C
NR_149001.1:n.247G>C
NM_000474.4:c.-105G>C MANE Select NP_000465.1:n.-105G>C
NR_149001.2:n.211G>C
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