Canonical Allele Identifier: CA2578839900
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117445-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117445C>G , CM000669.2:g.19117445C>G GRCh38
NC_000007.13:g.19157068C>G , CM000669.1:g.19157068C>G GRCh37
NC_000007.12:g.19123593C>G NCBI36
NG_008114.1:g.5228G>C
NG_008114.2:g.5228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-124G>C MANE Select ENSP00000242261.5:n.-124G>C
ENST00000242261.5:c.-124G>C ENSP00000242261.5:n.-124G>C
NM_000474.3:c.-124G>C NP_000465.1:n.-124G>C
NR_149001.1:n.228G>C
NM_000474.4:c.-124G>C MANE Select NP_000465.1:n.-124G>C
NR_149001.2:n.192G>C
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