Canonical Allele Identifier: CA2681939879
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117445-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117445C>T , CM000669.2:g.19117445C>T GRCh38
NC_000007.13:g.19157068C>T , CM000669.1:g.19157068C>T GRCh37
NC_000007.12:g.19123593C>T NCBI36
NG_008114.1:g.5228G>A
NG_008114.2:g.5228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-124G>A MANE Select ENSP00000242261.5:n.-124G>A
ENST00000242261.5:c.-124G>A ENSP00000242261.5:n.-124G>A
NM_000474.3:c.-124G>A NP_000465.1:n.-124G>A
NR_149001.1:n.228G>A
NM_000474.4:c.-124G>A MANE Select NP_000465.1:n.-124G>A
NR_149001.2:n.192G>A