Canonical Allele Identifier: CA367015935
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 583158
ClinVar RCV Id: RCV000707424
dbSNP Id: rs1051003265
gnomAD v2: 7-19156742-C-T
gnomAD v4: 7-19117119-C-T
MyVariant Identifiers: chr7:g.19156742C>T (hg19) chr7:g.19117119C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117119C>T , CM000669.2:g.19117119C>T GRCh38
NC_000007.13:g.19156742C>T , CM000669.1:g.19156742C>T GRCh37
NC_000007.12:g.19123267C>T NCBI36
NG_008114.1:g.5554G>A
NG_008114.2:g.5554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.203G>A MANE Select ENSP00000242261.5:p.Ser68Asn
ENST00000242261.5:c.203G>A ENSP00000242261.5:p.Ser68Asn
NM_000474.3:c.203G>A NP_000465.1:p.Ser68Asn
XM_011515496.1:c.203G>A XP_011513798.1:p.Ser68Asn
NR_149001.1:n.554G>A
NM_000474.4:c.203G>A MANE Select NP_000465.1:p.Ser68Asn
NR_149001.2:n.518G>A
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