Canonical Allele Identifier: CA4174484
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 734439
ClinVar RCV Id: RCV000909860
dbSNP Id: rs752216770
ExAC: 7:19156501 G / A
gnomAD v2: 7-19156501-G-A
gnomAD v4: 7-19116878-G-A
MyVariant Identifiers: chr7:g.19156501G>A (hg19) chr7:g.19116878G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116878G>A , CM000669.2:g.19116878G>A GRCh38
NC_000007.13:g.19156501G>A , CM000669.1:g.19156501G>A GRCh37
NC_000007.12:g.19123026G>A NCBI36
NG_008114.1:g.5795C>T
NG_008114.2:g.5795C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.444C>T MANE Select ENSP00000242261.5:p.Thr148=
ENST00000242261.5:c.444C>T ENSP00000242261.5:p.Thr148=
ENST00000354571.5:c.241C>T
ENST00000443687.5:c.47C>T
NM_000474.3:c.444C>T NP_000465.1:p.Thr148=
XM_011515496.1:c.444C>T XP_011513798.1:p.Thr148=
NR_149001.1:n.795C>T
NM_000474.4:c.444C>T MANE Select NP_000465.1:p.Thr148=
NR_149001.2:n.759C>T
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