Canonical Allele Identifier: CA4306404

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 678310
• ClinVar RCV Id: RCV000837889
• dbSNP Id: rs568301666
• ExAC: 7:75933226 T / G
• gnomAD v2: 7-75933226-T-G
• gnomAD v3: 7-76303909-T-G
• gnomAD v4: 7-76303909-T-G
• COSMIC: COSN26599725
• MyVariant Identifiers: chr7:g.75933226T>G (hg19) ; chr7:g.76303909T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76303909T>G , CM000669.2:g.76303909T>G	GRCh38
NC_000007.13:g.75933226T>G , CM000669.1:g.75933226T>G	GRCh37
NC_000007.12:g.75771162T>G	NCBI36
NG_008995.1:g.6352T>G , LRG_248:g.6352T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.428+44T>G MANE Select	ENSP00000248553.6:n.428+44T>G
ENST00000674547.1:c.*19+21T>G	ENSP00000502461.1:n.*19+21T>G
ENST00000674638.1:c.423+44T>G	ENSP00000502651.1:n.423+44T>G
ENST00000674650.1:c.365-75T>G	ENSP00000501628.1:n.365-75T>G
ENST00000674965.1:c.*84+44T>G	ENSP00000501765.1:n.*84+44T>G
ENST00000675134.1:c.407+65T>G	ENSP00000501831.1:n.407+65T>G
ENST00000675226.1:c.427+44T>G	ENSP00000502510.1:n.427+44T>G
ENST00000675417.1:n.705T>G
ENST00000675538.1:c.463+44T>G	ENSP00000502495.1:n.463+44T>G
ENST00000675906.1:c.*13+27T>G	ENSP00000502714.1:n.*13+27T>G
ENST00000676231.1:c.458+44T>G	ENSP00000502249.1:n.458+44T>G
ENST00000248553.6:c.428+44T>G	ENSP00000248553.6:n.428+44T>G
ENST00000429938.1:c.-77+44T>G	ENSP00000405285.1:n.-77+44T>G
ENST00000447574.1:c.*592+44T>G	ENSP00000414357.1:n.*592+44T>G
NM_001540.3:c.428+44T>G , LRG_248t1:c.428+44T>G	NP_001531.1:n.428+44T>G
NM_001540.4:c.428+44T>G	NP_001531.1:n.428+44T>G
NM_001540.5:c.428+44T>G MANE Select	NP_001531.1:n.428+44T>G