Canonical Allele Identifier: CA155459679
Gene: TWIST1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.19066916G>A
GRCh37 chr7:g.19106539G>A
gnomAD v2:
7:19106539 G / A
gnomAD v3:
7:19066916 G / A
gnomAD v4:
chr7-19066916-G-A
Joint Max Group AF 0.16621621 (AFR)
Genomes Max Group AF 0.16621621 (AFR)
dbSNP:
430
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19066916G>A , CM000669.2:g.19066916G>A GRCh38
NC_000007.13:g.19106539G>A , CM000669.1:g.19106539G>A GRCh37
NC_000007.12:g.19073064G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000443687.5:c.302-10751C>T
XR_927080.1:n.150-10751C>T
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