Canonical Allele Identifier: CA607828898

Gene: HSPB8

Linked Data

• dbSNP Id: rs1378433141
• gnomAD v2: 12-119624817-T-C
• gnomAD v4: 12-119187012-T-C
• MyVariant Identifiers: chr12:g.119624817T>C (hg19) ; chr12:g.119187012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187012T>C , CM000674.2:g.119187012T>C	GRCh38
NC_000012.11:g.119624817T>C , CM000674.1:g.119624817T>C	GRCh37
NC_000012.10:g.118109200T>C	NCBI36
NG_007953.2:g.13223T>C , LRG_249:g.13223T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281938.7:c.368-13T>C MANE Select	ENSP00000281938.3:n.368-13T>C
ENST00000674542.1:c.368-6687T>C	ENSP00000502352.1:n.368-6687T>C
ENST00000674715.1:n.541-13T>C
ENST00000675900.1:n.21+4976T>C
ENST00000676071.1:n.101-13T>C
ENST00000676244.1:n.74-13T>C
ENST00000281938.6:c.368-13T>C	ENSP00000281938.2:n.368-13T>C
ENST00000541798.1:c.91-13T>C
ENST00000542496.1:n.213T>C
NM_014365.2:c.368-13T>C , LRG_249t1:c.368-13T>C	NP_055180.1:n.368-13T>C
NM_014365.3:c.368-13T>C MANE Select	NP_055180.1:n.368-13T>C