Canonical Allele Identifier: CA4306224

Gene: HSPB1

Linked Data

• ClinVar Variation Id: 360736
• ClinVar RCV Id: RCV000286983 ; RCV000376443 ; RCV000767311 ; RCV001174179
• dbSNP Id: rs372833436
• ExAC: 7:75932026 C / T
• gnomAD v2: 7-75932026-C-T
• gnomAD v3: 7-76302709-C-T
• gnomAD v4: 7-76302709-C-T
• MyVariant Identifiers: chr7:g.75932026C>T (hg19) ; chr7:g.76302709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.76302709C>T , CM000669.2:g.76302709C>T	GRCh38
NC_000007.13:g.75932026C>T , CM000669.1:g.75932026C>T	GRCh37
NC_000007.12:g.75769962C>T	NCBI36
NG_008995.1:g.5152C>T , LRG_248:g.5152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248553.7:c.-4C>T MANE Select	ENSP00000248553.6:n.-4C>T
ENST00000674547.1:c.-4C>T	ENSP00000502461.1:n.-4C>T
ENST00000674560.1:n.37C>T
ENST00000674638.1:c.-4C>T	ENSP00000502651.1:n.-4C>T
ENST00000674650.1:c.-4C>T	ENSP00000501628.1:n.-4C>T
ENST00000674965.1:c.-4C>T	ENSP00000501765.1:n.-4C>T
ENST00000675134.1:c.-4C>T	ENSP00000501831.1:n.-4C>T
ENST00000675226.1:c.-4C>T	ENSP00000502510.1:n.-4C>T
ENST00000675488.1:n.37C>T
ENST00000675538.1:c.-4C>T	ENSP00000502495.1:n.-4C>T
ENST00000675624.1:n.37C>T
ENST00000675733.1:n.37C>T
ENST00000675906.1:c.-4C>T	ENSP00000502714.1:n.-4C>T
ENST00000676231.1:c.-4C>T	ENSP00000502249.1:n.-4C>T
ENST00000676398.1:n.37C>T
ENST00000248553.6:c.-4C>T	ENSP00000248553.6:n.-4C>T
ENST00000447574.1:c.-4C>T	ENSP00000414357.1:n.-4C>T
NM_001540.3:c.-4C>T , LRG_248t1:c.-4C>T	NP_001531.1:n.-4C>T
NM_001540.4:c.-4C>T	NP_001531.1:n.-4C>T
NM_001540.5:c.-4C>T MANE Select	NP_001531.1:n.-4C>T