Canonical Allele Identifier: CA4174533
Gene: TWIST1 HGNC NCBI

Linked Data

ClinVar Variation Id: 702088
ClinVar RCV Id: RCV000870965 RCV002539095
dbSNP Id: rs545987863
ExAC: 7:19156698 C / T
gnomAD v2: 7-19156698-C-T
gnomAD v3: 7-19117075-C-T
gnomAD v4: 7-19117075-C-T
MyVariant Identifiers: chr7:g.19156698C>T (hg19) chr7:g.19117075C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117075C>T , CM000669.2:g.19117075C>T GRCh38
NC_000007.13:g.19156698C>T , CM000669.1:g.19156698C>T GRCh37
NC_000007.12:g.19123223C>T NCBI36
NG_008114.1:g.5598G>A
NG_008114.2:g.5598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.247G>A MANE Select ENSP00000242261.5:p.Gly83Ser
ENST00000242261.5:c.247G>A ENSP00000242261.5:p.Gly83Ser
ENST00000354571.5:c.44G>A
NM_000474.3:c.247G>A NP_000465.1:p.Gly83Ser
XM_011515496.1:c.247G>A XP_011513798.1:p.Gly83Ser
NR_149001.1:n.598G>A
NM_000474.4:c.247G>A MANE Select NP_000465.1:p.Gly83Ser
NR_149001.2:n.562G>A
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