Canonical Allele Identifier: CA454066773
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117298-C-T
MyVariant Identifiers: chr7:g.19156921C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117298C>T , CM000669.2:g.19117298C>T GRCh38
NC_000007.13:g.19156921C>T , CM000669.1:g.19156921C>T GRCh37
NC_000007.12:g.19123446C>T NCBI36
NG_008114.1:g.5375G>A
NG_008114.2:g.5375G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.24G>A MANE Select ENSP00000242261.5:p.Ser8=
ENST00000242261.5:c.24G>A ENSP00000242261.5:p.Ser8=
NM_000474.3:c.24G>A NP_000465.1:p.Ser8=
XM_011515496.1:c.24G>A XP_011513798.1:p.Ser8=
NR_149001.1:n.375G>A
NM_000474.4:c.24G>A MANE Select NP_000465.1:p.Ser8=
NR_149001.2:n.339G>A
Search 100 bp 5'
Search 100 bp 3'