Canonical Allele Identifier: CA254289
Gene: TWIST1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7977
ClinVar RCV Id: RCV000008441
dbSNP Id: rs121909188

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116946C>A , CM000669.2:g.19116946C>A GRCh38
NC_000007.12:g.19123094C>A NCBI36
NC_000007.13:g.19156569C>A , CM000669.1:g.19156569C>A GRCh37
NG_008114.1:g.5727G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.5:c.376G>T ENSP00000242261.5:p.Glu126Ter
ENST00000354571.5:n.173G>T
NM_000474.3:c.376G>T VV NP_000465.1:p.Glu126Ter
XM_011515496.1:c.376G>T XP_011513798.1:p.Glu126Ter