Canonical Allele Identifier: CA340902123
Community Standard Title: NM_007034.5(DNAJB4):c.74G>A (p.Arg25Gln)
Gene: DNAJB4 HGNC NCBI
GIPC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.78005184G>A , CM000663.2:g.78005184G>A GRCh38
NC_000001.10:g.78470868G>A , CM000663.1:g.78470868G>A GRCh37
NC_000001.9:g.78243456G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007034.5:c.74G>A (DNAJB4) MANE Select NP_008965.2:p.Arg25Gln
ENST00000370763.6:c.74G>A (DNAJB4) MANE Select ENSP00000359799.5:p.Arg25Gln
NM_001317099.1:c.74G>A (DNAJB4) NP_001304028.1:p.Arg25Gln
NM_001317099.2:c.74G>A (DNAJB4) NP_001304028.1:p.Arg25Gln
NM_001317100.1:c.92-7867G>A (DNAJB4) NP_001304029.1:n.92-7867G>A
NM_001317100.2:c.92-7867G>A (DNAJB4) NP_001304029.1:n.92-7867G>A
NM_001317101.1:c.-134-7867G>A (DNAJB4) NP_001304030.1:n.-134-7867G>A
NM_001317101.2:c.-134-7867G>A (DNAJB4) NP_001304030.1:n.-134-7867G>A
NM_001317102.1:c.-134-7867G>A (DNAJB4) NP_001304031.1:n.-134-7867G>A
NM_001317102.2:c.-134-7867G>A (DNAJB4) NP_001304031.1:n.-134-7867G>A
NM_001317103.1:c.74G>A (DNAJB4) NP_001304032.1:p.Arg25Gln
NM_001317103.2:c.74G>A (DNAJB4) NP_001304032.1:p.Arg25Gln
NM_007034.3:c.74G>A (DNAJB4) NP_008965.2:p.Arg25Gln
NM_007034.4:c.74G>A (DNAJB4) NP_008965.2:p.Arg25Gln
ENST00000370763.5:c.74G>A (DNAJB4) ENSP00000359799.5:p.Arg25Gln
ENST00000426517.1:c.74G>A (DNAJB4) ENSP00000399494.1:p.Arg25Gln
ENST00000476396.1:n.250G>A (DNAJB4)
ENST00000476882.1:n.78+25565G>A (GIPC2)
ENST00000477671.2:n.274-7867G>A (DNAJB4)
ENST00000484662.1:n.340-7867G>A (DNAJB4)
ENST00000487931.1:n.120-7867G>A (DNAJB4)