Canonical Allele Identifier: CA2809154
Gene: TACC3 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.1735282C>T
GRCh37 chr4:g.1737009C>T
Revel Score:
ENST00000485989 0.084
ENST00000313288 (MANE Select) 0.084
gnomAD v2:
4:1737009 C / T
gnomAD v3:
4:1735282 C / T
gnomAD v4:
chr4-1735282-C-T
Joint Max Group AF 0.00020842 (SAS)
Exomes Max Group AF 0.00022074 (SAS)
ClinVar Allele:
2201297
ClinVar RCV:
RCV004077431
ClinVar Variation:
2211803
dbSNP:
116852708
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1735282C>T , CM000666.2:g.1735282C>T GRCh38
NC_000004.11:g.1737009C>T , CM000666.1:g.1737009C>T GRCh37
NC_000004.10:g.1706807C>T NCBI36
NG_064424.1:g.18793C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000313288.9:c.1601C>T MANE Select ENSP00000326550.4:p.Thr534Met
ENST00000470136.2:c.521-11C>T
ENST00000612220.5:c.521C>T ENSP00000478580.2:p.Thr174Met
ENST00000650779.1:n.1399C>T
ENST00000651251.1:n.1715C>T
ENST00000651472.1:c.1601C>T ENSP00000498361.1:p.Thr534Met
ENST00000651817.1:c.591C>T
ENST00000652770.1:c.1595C>T ENSP00000498219.1:p.Thr532Met
ENST00000313288.8:c.1601C>T ENSP00000326550.4:p.Thr534Met
ENST00000466077.1:n.300C>T
ENST00000470136.1:c.521-11C>T
ENST00000484651.5:n.1727C>T
ENST00000485989.6:c.521C>T ENSP00000419210.2:p.Thr174Met
ENST00000612220.4:c.*84C>T ENSP00000478580.1:n.*84C>T
ENST00000617535.4:c.*84C>T ENSP00000483196.1:n.*84C>T
NM_006342.2:c.1601C>T NP_006333.1:p.Thr534Met
XM_005247929.1:c.1601C>T XP_005247986.1:p.Thr534Met
XM_005247930.1:c.521C>T XP_005247987.1:p.Thr174Met
XM_011513386.1:c.1601C>T XP_011511688.1:p.Thr534Met
XM_011513387.1:c.1601C>T XP_011511689.1:p.Thr534Met
XM_005247929.3:c.1601C>T XP_005247986.1:p.Thr534Met
XM_005247930.3:c.521C>T XP_005247987.1:p.Thr174Met
XM_011513386.3:c.1601C>T XP_011511688.1:p.Thr534Met
XM_017007653.1:c.1601C>T XP_016863142.1:p.Thr534Met
NM_006342.3:c.1601C>T MANE Select NP_006333.1:p.Thr534Met
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