Canonical Allele Identifier: CA836363390
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1040535200
gnomAD v4: 7-19117395-T-A
MyVariant Identifiers: chr7:g.19157018T>A (hg19) chr7:g.19117395T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117395T>A , CM000669.2:g.19117395T>A GRCh38
NC_000007.13:g.19157018T>A , CM000669.1:g.19157018T>A GRCh37
NC_000007.12:g.19123543T>A NCBI36
NG_008114.1:g.5278A>T
NG_008114.2:g.5278A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-74A>T MANE Select ENSP00000242261.5:n.-74A>T
ENST00000242261.5:c.-74A>T ENSP00000242261.5:n.-74A>T
NM_000474.3:c.-74A>T NP_000465.1:n.-74A>T
XM_011515496.1:c.-74A>T XP_011513798.1:n.-74A>T
NR_149001.1:n.278A>T
NM_000474.4:c.-74A>T MANE Select NP_000465.1:n.-74A>T
NR_149001.2:n.242A>T
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