Canonical Allele Identifier: CA4174456
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs775715586
ExAC: 7:19156334 T / A
gnomAD v2: 7-19156334-T-A
gnomAD v3: 7-19116711-T-A
gnomAD v4: 7-19116711-T-A
MyVariant Identifiers: chr7:g.19156334T>A (hg19) chr7:g.19116711T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116711T>A , CM000669.2:g.19116711T>A GRCh38
NC_000007.13:g.19156334T>A , CM000669.1:g.19156334T>A GRCh37
NC_000007.12:g.19122859T>A NCBI36
NG_008114.1:g.5962A>T
NG_008114.2:g.5962A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.*2A>T MANE Select ENSP00000242261.5:n.*2A>T
ENST00000242261.5:c.*2A>T ENSP00000242261.5:n.*2A>T
ENST00000354571.5:c.408A>T
ENST00000443687.5:c.214A>T
NM_000474.3:c.*2A>T NP_000465.1:n.*2A>T
XM_011515496.1:c.*2A>T XP_011513798.1:n.*2A>T
NR_149001.1:n.962A>T
NM_000474.4:c.*2A>T MANE Select NP_000465.1:n.*2A>T
NR_149001.2:n.926A>T
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