Canonical Allele Identifier: CA454144337
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1355342791
gnomAD v2: 7-19156918-T-C
gnomAD v4: 7-19117295-T-C
MyVariant Identifiers: chr7:g.19156918T>C (hg19) chr7:g.19117295T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117295T>C , CM000669.2:g.19117295T>C GRCh38
NC_000007.13:g.19156918T>C , CM000669.1:g.19156918T>C GRCh37
NC_000007.12:g.19123443T>C NCBI36
NG_008114.1:g.5378A>G
NG_008114.2:g.5378A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.27A>G MANE Select ENSP00000242261.5:p.Pro9=
ENST00000242261.5:c.27A>G ENSP00000242261.5:p.Pro9=
NM_000474.3:c.27A>G NP_000465.1:p.Pro9=
XM_011515496.1:c.27A>G XP_011513798.1:p.Pro9=
NR_149001.1:n.378A>G
NM_000474.4:c.27A>G MANE Select NP_000465.1:p.Pro9=
NR_149001.2:n.342A>G
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