Canonical Allele Identifier: CA6819583

Gene: HSPB8

Linked Data

• ClinVar Variation Id: 2201804
• ClinVar RCV Id: RCV002644513
• dbSNP Id: rs375483506
• ExAC: 12:119624907 A / C
• gnomAD v2: 12-119624907-A-C
• gnomAD v3: 12-119187102-A-C
• gnomAD v4: 12-119187102-A-C
• MyVariant Identifiers: chr12:g.119624907A>C (hg19) ; chr12:g.119187102A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187102A>C , CM000674.2:g.119187102A>C	GRCh38
NC_000012.11:g.119624907A>C , CM000674.1:g.119624907A>C	GRCh37
NC_000012.10:g.118109290A>C	NCBI36
NG_007953.2:g.13313A>C , LRG_249:g.13313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281938.7:c.431+14A>C MANE Select	ENSP00000281938.3:n.431+14A>C
ENST00000674542.1:c.368-6597A>C	ENSP00000502352.1:n.368-6597A>C
ENST00000674715.1:n.604+14A>C
ENST00000674763.1:c.64+14A>C
ENST00000674852.1:c.64+14A>C
ENST00000675110.1:c.64+14A>C
ENST00000675211.1:c.64+14A>C
ENST00000675573.1:c.64+14A>C
ENST00000675900.1:n.21+5066A>C
ENST00000676071.1:n.164+14A>C
ENST00000676244.1:n.137+14A>C
ENST00000281938.6:c.431+14A>C	ENSP00000281938.2:n.431+14A>C
ENST00000541798.1:c.154+14A>C
ENST00000542496.1:n.289+14A>C
NM_014365.2:c.431+14A>C , LRG_249t1:c.431+14A>C	NP_055180.1:n.431+14A>C
NM_014365.3:c.431+14A>C MANE Select	NP_055180.1:n.431+14A>C