Canonical Allele Identifier: CA340907196

Gene: DNAJB4 GIPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.78016018T>C , CM000663.2:g.78016018T>C	GRCh38
NC_000001.10:g.78481702T>C , CM000663.1:g.78481702T>C	GRCh37
NC_000001.9:g.78254290T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007034.5:c.785T>C (DNAJB4) MANE Select	NP_008965.2:p.Leu262Ser
ENST00000370763.6:c.785T>C (DNAJB4) MANE Select	ENSP00000359799.5:p.Leu262Ser
NM_001317099.1:c.785T>C (DNAJB4)	NP_001304028.1:p.Leu262Ser
NM_001317099.2:c.785T>C (DNAJB4)	NP_001304028.1:p.Leu262Ser
NM_001317100.1:c.665T>C (DNAJB4)	NP_001304029.1:p.Leu222Ser
NM_001317100.2:c.665T>C (DNAJB4)	NP_001304029.1:p.Leu222Ser
NM_001317101.1:c.440T>C (DNAJB4)	NP_001304030.1:p.Leu147Ser
NM_001317101.2:c.440T>C (DNAJB4)	NP_001304030.1:p.Leu147Ser
NM_001317102.1:c.440T>C (DNAJB4)	NP_001304031.1:p.Leu147Ser
NM_001317102.2:c.440T>C (DNAJB4)	NP_001304031.1:p.Leu147Ser
NM_001317103.1:c.216T>C (DNAJB4)	NP_001304032.1:p.Ile72=
NM_001317103.2:c.216T>C (DNAJB4)	NP_001304032.1:p.Ile72=
NM_007034.3:c.785T>C (DNAJB4)	NP_008965.2:p.Leu262Ser
NM_007034.4:c.785T>C (DNAJB4)	NP_008965.2:p.Leu262Ser
ENST00000370763.5:c.785T>C (DNAJB4)	ENSP00000359799.5:p.Leu262Ser
ENST00000476396.1:n.392T>C (DNAJB4)
ENST00000476882.1:n.78+36399T>C (GIPC2)
ENST00000487931.1:n.693T>C (DNAJB4)