Canonical Allele Identifier: CA1717652471
Gene: GTF2I HGNC NCBI

Linked Data

dbSNP Id: rs1787548091

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.74684726C>T , CM000669.2:g.74684726C>T GRCh38
NC_000007.13:g.74099060C>T , CM000669.1:g.74099060C>T GRCh37
NC_000007.12:g.73736996C>T NCBI36
NG_008179.2:g.32037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690345.1:c.479-4398C>T ENSP00000509776.1:n.479-4398C>T
ENST00000573035.6:c.-5-4398C>T MANE Select ENSP00000460070.1:n.-5-4398C>T
ENST00000650807.1:c.479-4398C>T ENSP00000499094.1:n.479-4398C>T
ENST00000432143.2:c.-184C>T ENSP00000405022.1:n.-184C>T
ENST00000443166.5:c.-5-4398C>T ENSP00000404240.1:n.-5-4398C>T
ENST00000573035.5:c.-5-4398C>T ENSP00000460070.1:n.-5-4398C>T
ENST00000613513.1:n.403-6247C>T
ENST00000614986.4:c.-5-4398C>T ENSP00000484526.1:n.-5-4398C>T
ENST00000620879.4:c.-5-4398C>T ENSP00000477837.1:n.-5-4398C>T
ENST00000621734.4:c.-5-4398C>T ENSP00000482476.1:n.-5-4398C>T
NM_001163636.2:c.-5-4398C>T NP_001157108.1:n.-5-4398C>T
NM_001280800.1:c.-5-4398C>T NP_001267729.1:n.-5-4398C>T
NM_001518.4:c.-5-4398C>T NP_001509.3:n.-5-4398C>T
NM_032999.3:c.-5-4398C>T NP_127492.1:n.-5-4398C>T
NM_033000.3:c.-5-4398C>T NP_127493.1:n.-5-4398C>T
NM_033001.3:c.-5-4398C>T NP_127494.1:n.-5-4398C>T
NM_001163636.3:c.-5-4398C>T NP_001157108.1:n.-5-4398C>T
NM_001518.5:c.-5-4398C>T NP_001509.3:n.-5-4398C>T
NM_032999.4:c.-5-4398C>T MANE Select NP_127492.1:n.-5-4398C>T
NM_033000.4:c.-5-4398C>T NP_127493.1:n.-5-4398C>T
NM_033001.4:c.-5-4398C>T NP_127494.1:n.-5-4398C>T
NM_001280800.2:c.-5-4398C>T NP_001267729.1:n.-5-4398C>T