Canonical Allele Identifier: CA1717652461

Gene: GTF2I

Linked Data

• dbSNP Id: rs1787546251
• gnomAD v3: 7-74684713-C-T
• gnomAD v4: 7-74684713-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.74684713C>T , CM000669.2:g.74684713C>T	GRCh38
NC_000007.13:g.74099047C>T , CM000669.1:g.74099047C>T	GRCh37
NC_000007.12:g.73736983C>T	NCBI36
NG_008179.2:g.32024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000690345.1:c.479-4411C>T	ENSP00000509776.1:n.479-4411C>T
ENST00000573035.6:c.-5-4411C>T MANE Select	ENSP00000460070.1:n.-5-4411C>T
ENST00000650807.1:c.479-4411C>T	ENSP00000499094.1:n.479-4411C>T
ENST00000432143.2:c.-197C>T	ENSP00000405022.1:n.-197C>T
ENST00000443166.5:c.-5-4411C>T	ENSP00000404240.1:n.-5-4411C>T
ENST00000573035.5:c.-5-4411C>T	ENSP00000460070.1:n.-5-4411C>T
ENST00000613513.1:n.403-6260C>T
ENST00000614986.4:c.-5-4411C>T	ENSP00000484526.1:n.-5-4411C>T
ENST00000620879.4:c.-5-4411C>T	ENSP00000477837.1:n.-5-4411C>T
ENST00000621734.4:c.-5-4411C>T	ENSP00000482476.1:n.-5-4411C>T
NM_001163636.2:c.-5-4411C>T	NP_001157108.1:n.-5-4411C>T
NM_001280800.1:c.-5-4411C>T	NP_001267729.1:n.-5-4411C>T
NM_001518.4:c.-5-4411C>T	NP_001509.3:n.-5-4411C>T
NM_032999.3:c.-5-4411C>T	NP_127492.1:n.-5-4411C>T
NM_033000.3:c.-5-4411C>T	NP_127493.1:n.-5-4411C>T
NM_033001.3:c.-5-4411C>T	NP_127494.1:n.-5-4411C>T
NM_001163636.3:c.-5-4411C>T	NP_001157108.1:n.-5-4411C>T
NM_001518.5:c.-5-4411C>T	NP_001509.3:n.-5-4411C>T
NM_032999.4:c.-5-4411C>T MANE Select	NP_127492.1:n.-5-4411C>T
NM_033000.4:c.-5-4411C>T	NP_127493.1:n.-5-4411C>T
NM_033001.4:c.-5-4411C>T	NP_127494.1:n.-5-4411C>T
NM_001280800.2:c.-5-4411C>T	NP_001267729.1:n.-5-4411C>T