Canonical Allele Identifier: CA836363362
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1256066594
gnomAD v3: 7-19117373-G-T
gnomAD v4: 7-19117373-G-T
MyVariant Identifiers: chr7:g.19156996G>T (hg19) chr7:g.19117373G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117373G>T , CM000669.2:g.19117373G>T GRCh38
NC_000007.13:g.19156996G>T , CM000669.1:g.19156996G>T GRCh37
NC_000007.12:g.19123521G>T NCBI36
NG_008114.1:g.5300C>A
NG_008114.2:g.5300C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-52C>A MANE Select ENSP00000242261.5:n.-52C>A
ENST00000242261.5:c.-52C>A ENSP00000242261.5:n.-52C>A
NM_000474.3:c.-52C>A NP_000465.1:n.-52C>A
XM_011515496.1:c.-52C>A XP_011513798.1:n.-52C>A
NR_149001.1:n.300C>A
NM_000474.4:c.-52C>A MANE Select NP_000465.1:n.-52C>A
NR_149001.2:n.264C>A
Search 100 bp 5'
Search 100 bp 3'