Canonical Allele Identifier: CA155466659
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1012863789
gnomAD v3: 7-19117418-G-T
gnomAD v4: 7-19117418-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117418G>T , CM000669.2:g.19117418G>T GRCh38
NC_000007.13:g.19157041G>T , CM000669.1:g.19157041G>T GRCh37
NC_000007.12:g.19123566G>T NCBI36
NG_008114.1:g.5255C>A
NG_008114.2:g.5255C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-97C>A MANE Select ENSP00000242261.5:n.-97C>A
ENST00000242261.5:c.-97C>A ENSP00000242261.5:n.-97C>A
NM_000474.3:c.-97C>A NP_000465.1:n.-97C>A
XM_011515496.1:c.-97C>A XP_011513798.1:n.-97C>A
NR_149001.1:n.255C>A
NM_000474.4:c.-97C>A MANE Select NP_000465.1:n.-97C>A
NR_149001.2:n.219C>A