Canonical Allele Identifier: CA2681939871
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788601041
gnomAD v4: 7-19117440-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117440G>C , CM000669.2:g.19117440G>C GRCh38
NC_000007.13:g.19157063G>C , CM000669.1:g.19157063G>C GRCh37
NC_000007.12:g.19123588G>C NCBI36
NG_008114.1:g.5233C>G
NG_008114.2:g.5233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-119C>G MANE Select ENSP00000242261.5:n.-119C>G
ENST00000242261.5:c.-119C>G ENSP00000242261.5:n.-119C>G
NM_000474.3:c.-119C>G NP_000465.1:n.-119C>G
NR_149001.1:n.233C>G
NM_000474.4:c.-119C>G MANE Select NP_000465.1:n.-119C>G
NR_149001.2:n.197C>G
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