Canonical Allele Identifier: CA2681939878

Gene: TWIST1

Linked Data

• gnomAD v4: 7-19117445-C-A

Genomic Alleles

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

Transcript Alleles

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