Canonical Allele Identifier: CA4174485
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs757839483
ExAC: 7:19156506 G / C
gnomAD v2: 7-19156506-G-C
gnomAD v3: 7-19116883-G-C
gnomAD v4: 7-19116883-G-C
MyVariant Identifiers: chr7:g.19156506G>C (hg19) chr7:g.19116883G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116883G>C , CM000669.2:g.19116883G>C GRCh38
NC_000007.13:g.19156506G>C , CM000669.1:g.19156506G>C GRCh37
NC_000007.12:g.19123031G>C NCBI36
NG_008114.1:g.5790C>G
NG_008114.2:g.5790C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.439C>G MANE Select ENSP00000242261.5:p.Gln147Glu
ENST00000242261.5:c.439C>G ENSP00000242261.5:p.Gln147Glu
ENST00000354571.5:c.236C>G
ENST00000443687.5:c.42C>G
NM_000474.3:c.439C>G NP_000465.1:p.Gln147Glu
XM_011515496.1:c.439C>G XP_011513798.1:p.Gln147Glu
NR_149001.1:n.790C>G
NM_000474.4:c.439C>G MANE Select NP_000465.1:p.Gln147Glu
NR_149001.2:n.754C>G
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