Canonical Allele Identifier: CA836363340
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1396934521
gnomAD v3: 7-19117359-C-T
gnomAD v4: 7-19117359-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117359C>T , CM000669.2:g.19117359C>T GRCh38
NC_000007.13:g.19156982C>T , CM000669.1:g.19156982C>T GRCh37
NC_000007.12:g.19123507C>T NCBI36
NG_008114.1:g.5314G>A
NG_008114.2:g.5314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-38G>A MANE Select ENSP00000242261.5:n.-38G>A
ENST00000242261.5:c.-38G>A ENSP00000242261.5:n.-38G>A
NM_000474.3:c.-38G>A NP_000465.1:n.-38G>A
XM_011515496.1:c.-38G>A XP_011513798.1:n.-38G>A
NR_149001.1:n.314G>A
NM_000474.4:c.-38G>A MANE Select NP_000465.1:n.-38G>A
NR_149001.2:n.278G>A