Canonical Allele Identifier: CA4174472
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs776280385
ExAC: 7:19156449 C / T
gnomAD v2: 7-19156449-C-T
gnomAD v4: 7-19116826-C-T
MyVariant Identifiers: chr7:g.19156449C>T (hg19) chr7:g.19116826C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116826C>T , CM000669.2:g.19116826C>T GRCh38
NC_000007.13:g.19156449C>T , CM000669.1:g.19156449C>T GRCh37
NC_000007.12:g.19122974C>T NCBI36
NG_008114.1:g.5847G>A
NG_008114.2:g.5847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.496G>A MANE Select ENSP00000242261.5:p.Asp166Asn
ENST00000242261.5:c.496G>A ENSP00000242261.5:p.Asp166Asn
ENST00000354571.5:c.293G>A
ENST00000443687.5:c.99G>A
NM_000474.3:c.496G>A NP_000465.1:p.Asp166Asn
XM_011515496.1:c.496G>A XP_011513798.1:p.Asp166Asn
NR_149001.1:n.847G>A
NM_000474.4:c.496G>A MANE Select NP_000465.1:p.Asp166Asn
NR_149001.2:n.811G>A
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