Canonical Allele Identifier: CA454143929
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788589120
gnomAD v4: 7-19117109-C-T
MyVariant Identifiers: chr7:g.19156732C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117109C>T , CM000669.2:g.19117109C>T GRCh38
NC_000007.13:g.19156732C>T , CM000669.1:g.19156732C>T GRCh37
NC_000007.12:g.19123257C>T NCBI36
NG_008114.1:g.5564G>A
NG_008114.2:g.5564G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.213G>A MANE Select ENSP00000242261.5:p.Gln71=
ENST00000242261.5:c.213G>A ENSP00000242261.5:p.Gln71=
ENST00000354571.5:c.10G>A
NM_000474.3:c.213G>A NP_000465.1:p.Gln71=
XM_011515496.1:c.213G>A XP_011513798.1:p.Gln71=
NR_149001.1:n.564G>A
NM_000474.4:c.213G>A MANE Select NP_000465.1:p.Gln71=
NR_149001.2:n.528G>A