Canonical Allele Identifier: CA4590682

Gene: DNAJB6

Linked Data

• ClinVar Variation Id: 283743
• ClinVar RCV Id: RCV000317139 ; RCV000371708 ; RCV000359228 ; RCV000725321 ; RCV001079558 ; RCV003930085
• dbSNP Id: rs142974468
• ExAC: 7:157208773 C / T
• gnomAD v2: 7-157208773-C-T
• gnomAD v3: 7-157416079-C-T
• gnomAD v4: 7-157416079-C-T
• MyVariant Identifiers: chr7:g.157208773C>T (hg19) ; chr7:g.157416079C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.157416079C>T , CM000669.2:g.157416079C>T	GRCh38
NC_000007.13:g.157208773C>T , CM000669.1:g.157208773C>T	GRCh37
NC_000007.12:g.156901534C>T	NCBI36
NG_032573.1:g.84064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262177.9:c.962C>T MANE Select	ENSP00000262177.4:p.Ser321Leu
ENST00000262177.8:c.962C>T	ENSP00000262177.4:p.Ser321Leu
ENST00000443280.5:c.617C>T	ENSP00000396267.1:p.Ser206Leu
ENST00000459889.5:c.*5485C>T	ENSP00000488263.1:n.*5485C>T
NM_058246.3:c.962C>T	NP_490647.1:p.Ser321Leu
XM_006715823.1:c.755C>T	XP_006715886.1:p.Ser252Leu
NM_001363676.1:c.617C>T	NP_001350605.1:p.Ser206Leu
XM_006715823.2:c.755C>T	XP_006715886.1:p.Ser252Leu
NM_058246.4:c.962C>T MANE Select	NP_490647.1:p.Ser321Leu