Canonical Allele Identifier: CA340907351
Community Standard Title: NM_007034.5(DNAJB4):c.856A>T (p.Lys286Ter)
Gene: DNAJB4 HGNC NCBI
GIPC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.78016089A>T , CM000663.2:g.78016089A>T GRCh38
NC_000001.10:g.78481773A>T , CM000663.1:g.78481773A>T GRCh37
NC_000001.9:g.78254361A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_007034.5:c.856A>T (DNAJB4) MANE Select NP_008965.2:p.Lys286Ter
ENST00000370763.6:c.856A>T (DNAJB4) MANE Select ENSP00000359799.5:p.Lys286Ter
NM_001317099.1:c.856A>T (DNAJB4) NP_001304028.1:p.Lys286Ter
NM_001317099.2:c.856A>T (DNAJB4) NP_001304028.1:p.Lys286Ter
NM_001317100.1:c.736A>T (DNAJB4) NP_001304029.1:p.Lys246Ter
NM_001317100.2:c.736A>T (DNAJB4) NP_001304029.1:p.Lys246Ter
NM_001317101.1:c.511A>T (DNAJB4) NP_001304030.1:p.Lys171Ter
NM_001317101.2:c.511A>T (DNAJB4) NP_001304030.1:p.Lys171Ter
NM_001317102.1:c.511A>T (DNAJB4) NP_001304031.1:p.Lys171Ter
NM_001317102.2:c.511A>T (DNAJB4) NP_001304031.1:p.Lys171Ter
NM_001317103.1:c.*53A>T (DNAJB4) NP_001304032.1:n.*53A>T
NM_001317103.2:c.*53A>T (DNAJB4) NP_001304032.1:n.*53A>T
NM_007034.3:c.856A>T (DNAJB4) NP_008965.2:p.Lys286Ter
NM_007034.4:c.856A>T (DNAJB4) NP_008965.2:p.Lys286Ter
ENST00000370763.5:c.856A>T (DNAJB4) ENSP00000359799.5:p.Lys286Ter
ENST00000476396.1:n.463A>T (DNAJB4)
ENST00000476882.1:n.78+36470A>T (GIPC2)
ENST00000487931.1:n.764A>T (DNAJB4)