Canonical Allele Identifier: CA1099033053
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788599701
gnomAD v3: 7-19117409-C-G
gnomAD v4: 7-19117409-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117409C>G , CM000669.2:g.19117409C>G GRCh38
NC_000007.13:g.19157032C>G , CM000669.1:g.19157032C>G GRCh37
NC_000007.12:g.19123557C>G NCBI36
NG_008114.1:g.5264G>C
NG_008114.2:g.5264G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-88G>C MANE Select ENSP00000242261.5:n.-88G>C
ENST00000242261.5:c.-88G>C ENSP00000242261.5:n.-88G>C
NM_000474.3:c.-88G>C NP_000465.1:n.-88G>C
XM_011515496.1:c.-88G>C XP_011513798.1:n.-88G>C
NR_149001.1:n.264G>C
NM_000474.4:c.-88G>C MANE Select NP_000465.1:n.-88G>C
NR_149001.2:n.228G>C
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