Canonical Allele Identifier: CA2681939865

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117430-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117430C>A , CM000669.2:g.19117430C>A	GRCh38
NC_000007.13:g.19157053C>A , CM000669.1:g.19157053C>A	GRCh37
NC_000007.12:g.19123578C>A	NCBI36
NG_008114.1:g.5243G>T
NG_008114.2:g.5243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-109G>T MANE Select	ENSP00000242261.5:n.-109G>T
ENST00000242261.5:c.-109G>T	ENSP00000242261.5:n.-109G>T
NM_000474.3:c.-109G>T	NP_000465.1:n.-109G>T
NR_149001.1:n.243G>T
NM_000474.4:c.-109G>T MANE Select	NP_000465.1:n.-109G>T
NR_149001.2:n.207G>T