Canonical Allele Identifier: CA454066771
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 706021
ClinVar RCV Id: RCV000876501
dbSNP Id: rs1207890932
gnomAD v2: 7-19156921-C-A
gnomAD v4: 7-19117298-C-A
MyVariant Identifiers: chr7:g.19156921C>A (hg19) chr7:g.19117298C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117298C>A , CM000669.2:g.19117298C>A GRCh38
NC_000007.13:g.19156921C>A , CM000669.1:g.19156921C>A GRCh37
NC_000007.12:g.19123446C>A NCBI36
NG_008114.1:g.5375G>T
NG_008114.2:g.5375G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.24G>T MANE Select ENSP00000242261.5:p.Ser8=
ENST00000242261.5:c.24G>T ENSP00000242261.5:p.Ser8=
NM_000474.3:c.24G>T NP_000465.1:p.Ser8=
XM_011515496.1:c.24G>T XP_011513798.1:p.Ser8=
NR_149001.1:n.375G>T
NM_000474.4:c.24G>T MANE Select NP_000465.1:p.Ser8=
NR_149001.2:n.339G>T
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