Canonical Allele Identifier: CA6819569

Gene: HSPB8

Linked Data

• dbSNP Id: rs765364995
• ExAC: 12:119624807 C / T
• gnomAD v2: 12-119624807-C-T
• gnomAD v3: 12-119187002-C-T
• gnomAD v4: 12-119187002-C-T
• MyVariant Identifiers: chr12:g.119624807C>T (hg19) ; chr12:g.119187002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.119187002C>T , CM000674.2:g.119187002C>T	GRCh38
NC_000012.11:g.119624807C>T , CM000674.1:g.119624807C>T	GRCh37
NC_000012.10:g.118109190C>T	NCBI36
NG_007953.2:g.13213C>T , LRG_249:g.13213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281938.7:c.368-23C>T MANE Select	ENSP00000281938.3:n.368-23C>T
ENST00000674542.1:c.368-6697C>T	ENSP00000502352.1:n.368-6697C>T
ENST00000674715.1:n.541-23C>T
ENST00000675900.1:n.21+4966C>T
ENST00000676071.1:n.101-23C>T
ENST00000676244.1:n.74-23C>T
ENST00000281938.6:c.368-23C>T	ENSP00000281938.2:n.368-23C>T
ENST00000541798.1:c.91-23C>T
ENST00000542496.1:n.203C>T
NM_014365.2:c.368-23C>T , LRG_249t1:c.368-23C>T	NP_055180.1:n.368-23C>T
NM_014365.3:c.368-23C>T MANE Select	NP_055180.1:n.368-23C>T