Canonical Allele Identifier: CA836363396
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs2522205
gnomAD v3: 7-19117401-G-A
gnomAD v4: 7-19117401-G-A
MyVariant Identifiers: chr7:g.19157024G>A (hg19) chr7:g.19117401G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117401G>A , CM000669.2:g.19117401G>A GRCh38
NC_000007.13:g.19157024G>A , CM000669.1:g.19157024G>A GRCh37
NC_000007.12:g.19123549G>A NCBI36
NG_008114.1:g.5272C>T
NG_008114.2:g.5272C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-80C>T MANE Select ENSP00000242261.5:n.-80C>T
ENST00000242261.5:c.-80C>T ENSP00000242261.5:n.-80C>T
NM_000474.3:c.-80C>T NP_000465.1:n.-80C>T
XM_011515496.1:c.-80C>T XP_011513798.1:n.-80C>T
NR_149001.1:n.272C>T
NM_000474.4:c.-80C>T MANE Select NP_000465.1:n.-80C>T
NR_149001.2:n.236C>T
Search 100 bp 5'
Search 100 bp 3'