Canonical Allele Identifier: CA367015628
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1418275
ClinVar RCV Id: RCV001930899
dbSNP Id: rs2115396763
gnomAD v4: 7-19116973-C-A
MyVariant Identifiers: chr7:g.19156596C>A (hg19) chr7:g.19116973C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116973C>A , CM000669.2:g.19116973C>A GRCh38
NC_000007.13:g.19156596C>A , CM000669.1:g.19156596C>A GRCh37
NC_000007.12:g.19123121C>A NCBI36
NG_008114.1:g.5700G>T
NG_008114.2:g.5700G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.349G>T MANE Select ENSP00000242261.5:p.Glu117Ter
ENST00000242261.5:c.349G>T ENSP00000242261.5:p.Glu117Ter
ENST00000354571.5:c.146G>T
NM_000474.3:c.349G>T NP_000465.1:p.Glu117Ter
XM_011515496.1:c.349G>T XP_011513798.1:p.Glu117Ter
NR_149001.1:n.700G>T
NM_000474.4:c.349G>T MANE Select NP_000465.1:p.Glu117Ter
NR_149001.2:n.664G>T
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