Canonical Allele Identifier: CA4590540

Gene: DNAJB6

Linked Data

• ClinVar Variation Id: 447270
• ClinVar RCV Id: RCV000517133 ; RCV001458838
• dbSNP Id: rs759259870
• ExAC: 7:157177556 T / C
• gnomAD v2: 7-157177556-T-C
• gnomAD v3: 7-157384862-T-C
• gnomAD v4: 7-157384862-T-C
• MyVariant Identifiers: chr7:g.157177556T>C (hg19) ; chr7:g.157384862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.157384862T>C , CM000669.2:g.157384862T>C	GRCh38
NC_000007.13:g.157177556T>C , CM000669.1:g.157177556T>C	GRCh37
NC_000007.12:g.156870317T>C	NCBI36
NG_032573.1:g.52847T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262177.9:c.479-5T>C MANE Select	ENSP00000262177.4:n.479-5T>C
ENST00000262177.8:c.479-5T>C	ENSP00000262177.4:n.479-5T>C
ENST00000417758.5:c.479-5T>C	ENSP00000400665.1:n.479-5T>C
ENST00000429029.6:c.479-5T>C	ENSP00000397556.2:n.479-5T>C
ENST00000443280.5:c.346+17379T>C	ENSP00000396267.1:n.346+17379T>C
ENST00000459889.5:c.479-5T>C	ENSP00000488263.1:n.479-5T>C
ENST00000465908.5:n.275-5T>C
ENST00000468928.5:n.784-5T>C
ENST00000487480.1:n.4254-5T>C
ENST00000634080.1:c.479-5T>C	ENSP00000488740.1:n.479-5T>C
NM_005494.2:c.479-5T>C	NP_005485.1:n.479-5T>C
NM_058246.3:c.479-5T>C	NP_490647.1:n.479-5T>C
XM_005249515.2:c.479-5T>C	XP_005249572.1:n.479-5T>C
XM_005249516.2:c.479-5T>C	XP_005249573.1:n.479-5T>C
XM_006715823.1:c.479-5T>C	XP_006715886.1:n.479-5T>C
XM_011515704.1:c.479-5T>C	XP_011514006.1:n.479-5T>C
NM_001363676.1:c.346+17379T>C	NP_001350605.1:n.346+17379T>C
XM_005249515.3:c.479-5T>C	XP_005249572.1:n.479-5T>C
XM_006715823.2:c.479-5T>C	XP_006715886.1:n.479-5T>C
NM_058246.4:c.479-5T>C MANE Select	NP_490647.1:n.479-5T>C
NM_005494.3:c.479-5T>C	NP_005485.1:n.479-5T>C