Canonical Allele Identifier: CA573191763
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1256066594
gnomAD v2: 7-19156996-G-A
gnomAD v3: 7-19117373-G-A
gnomAD v4: 7-19117373-G-A
MyVariant Identifiers: chr7:g.19156996G>A (hg19) chr7:g.19117373G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117373G>A , CM000669.2:g.19117373G>A GRCh38
NC_000007.13:g.19156996G>A , CM000669.1:g.19156996G>A GRCh37
NC_000007.12:g.19123521G>A NCBI36
NG_008114.1:g.5300C>T
NG_008114.2:g.5300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-52C>T MANE Select ENSP00000242261.5:n.-52C>T
ENST00000242261.5:c.-52C>T ENSP00000242261.5:n.-52C>T
NM_000474.3:c.-52C>T NP_000465.1:n.-52C>T
XM_011515496.1:c.-52C>T XP_011513798.1:n.-52C>T
NR_149001.1:n.300C>T
NM_000474.4:c.-52C>T MANE Select NP_000465.1:n.-52C>T
NR_149001.2:n.264C>T
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