Canonical Allele Identifier: CA2681939862

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117429-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.19117429C>A , CM000669.2:g.19117429C>A	GRCh38
NC_000007.13:g.19157052C>A , CM000669.1:g.19157052C>A	GRCh37
NC_000007.12:g.19123577C>A	NCBI36
NG_008114.1:g.5244G>T
NG_008114.2:g.5244G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242261.6:c.-108G>T MANE Select	ENSP00000242261.5:n.-108G>T
ENST00000242261.5:c.-108G>T	ENSP00000242261.5:n.-108G>T
NM_000474.3:c.-108G>T	NP_000465.1:n.-108G>T
NR_149001.1:n.244G>T
NM_000474.4:c.-108G>T MANE Select	NP_000465.1:n.-108G>T
NR_149001.2:n.208G>T