Canonical Allele Identifier: CA367016343
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117314-T-A
MyVariant Identifiers: chr7:g.19156937T>A (hg19) chr7:g.19117314T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117314T>A , CM000669.2:g.19117314T>A GRCh38
NC_000007.13:g.19156937T>A , CM000669.1:g.19156937T>A GRCh37
NC_000007.12:g.19123462T>A NCBI36
NG_008114.1:g.5359A>T
NG_008114.2:g.5359A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.8A>T MANE Select ENSP00000242261.5:p.Gln3Leu
ENST00000242261.5:c.8A>T ENSP00000242261.5:p.Gln3Leu
NM_000474.3:c.8A>T NP_000465.1:p.Gln3Leu
XM_011515496.1:c.8A>T XP_011513798.1:p.Gln3Leu
NR_149001.1:n.359A>T
NM_000474.4:c.8A>T MANE Select NP_000465.1:p.Gln3Leu
NR_149001.2:n.323A>T
Search 100 bp 5'
Search 100 bp 3'