Canonical Allele Identifier: CA4174535
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476630
ClinVar RCV Id: RCV000548880 RCV001556108
dbSNP Id: rs565371578
ExAC: 7:19156765 G / A
gnomAD v2: 7-19156765-G-A
gnomAD v3: 7-19117142-G-A
gnomAD v4: 7-19117142-G-A
MyVariant Identifiers: chr7:g.19156765G>A (hg19) chr7:g.19117142G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117142G>A , CM000669.2:g.19117142G>A GRCh38
NC_000007.13:g.19156765G>A , CM000669.1:g.19156765G>A GRCh37
NC_000007.12:g.19123290G>A NCBI36
NG_008114.1:g.5531C>T
NG_008114.2:g.5531C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.180C>T MANE Select ENSP00000242261.5:p.Val60=
ENST00000242261.5:c.180C>T ENSP00000242261.5:p.Val60=
NM_000474.3:c.180C>T NP_000465.1:p.Val60=
XM_011515496.1:c.180C>T XP_011513798.1:p.Val60=
NR_149001.1:n.531C>T
NM_000474.4:c.180C>T MANE Select NP_000465.1:p.Val60=
NR_149001.2:n.495C>T
Search 100 bp 5'
Search 100 bp 3'