Canonical Allele Identifier: CA4174544
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs780043343
ExAC: 7:19156980 G / A
gnomAD v2: 7-19156980-G-A
gnomAD v3: 7-19117357-G-A
gnomAD v4: 7-19117357-G-A
MyVariant Identifiers: chr7:g.19156980G>A (hg19) chr7:g.19117357G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117357G>A , CM000669.2:g.19117357G>A GRCh38
NC_000007.13:g.19156980G>A , CM000669.1:g.19156980G>A GRCh37
NC_000007.12:g.19123505G>A NCBI36
NG_008114.1:g.5316C>T
NG_008114.2:g.5316C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-36C>T MANE Select ENSP00000242261.5:n.-36C>T
ENST00000242261.5:c.-36C>T ENSP00000242261.5:n.-36C>T
NM_000474.3:c.-36C>T NP_000465.1:n.-36C>T
XM_011515496.1:c.-36C>T XP_011513798.1:n.-36C>T
NR_149001.1:n.316C>T
NM_000474.4:c.-36C>T MANE Select NP_000465.1:n.-36C>T
NR_149001.2:n.280C>T
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