Canonical Allele Identifier: CA254285
Gene: TWIST1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7974
ClinVar RCV Id: RCV000008438
dbSNP Id: rs104894057

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116966T>G , CM000669.2:g.19116966T>G GRCh38
NC_000007.13:g.19156589T>G , CM000669.1:g.19156589T>G GRCh37
NC_000007.12:g.19123114T>G NCBI36
NG_008114.1:g.5707A>C
NG_008114.2:g.5707A>C

Transcript Alleles

HGVS Amino-acid change
NM_000474.3:c.356A>C VV NP_000465.1:p.Gln119Pro
XM_011515496.1:c.356A>C XP_011513798.1:p.Gln119Pro
NR_149001.1:n.707A>C
NM_000474.4:c.356A>C VV MANE Preferred
ENST00000242261.5:c.356A>C ENSP00000242261.5:p.Gln119Pro
ENST00000354571.5:n.153A>C