Canonical Allele Identifier: CA890084586
Gene: HSPB7 HGNC NCBI

Linked Data

dbSNP Id: rs1246707962
gnomAD v3: 1-16016775-C-T
gnomAD v4: 1-16016775-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16016775C>T , CM000663.2:g.16016775C>T GRCh38
NC_000001.10:g.16343270C>T , CM000663.1:g.16343270C>T GRCh37
NC_000001.9:g.16215857C>T NCBI36
NG_053133.1:g.7022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311890.14:c.333+299G>A MANE Select ENSP00000310111.9:n.333+299G>A
ENST00000311890.13:c.333+299G>A ENSP00000310111.9:n.333+299G>A
ENST00000375718.4:c.558+299G>A ENSP00000364870.4:n.558+299G>A
ENST00000406363.2:c.345+299G>A ENSP00000385472.2:n.345+299G>A
ENST00000411503.5:c.318+314G>A ENSP00000391578.1:n.318+314G>A
ENST00000442459.2:n.970+299G>A
ENST00000463576.5:c.195+314G>A ENSP00000417966.1:n.195+314G>A
ENST00000487046.1:c.348+299G>A ENSP00000419477.1:n.348+299G>A
NM_014424.4:c.333+299G>A NP_055239.1:n.333+299G>A
XM_011541249.1:c.612+299G>A XP_011539551.1:n.612+299G>A
XM_011541250.1:c.609+299G>A XP_011539552.1:n.609+299G>A
NM_001349682.1:c.558+299G>A NP_001336611.1:n.558+299G>A
NM_001349683.1:c.345+299G>A NP_001336612.1:n.345+299G>A
NM_001349685.1:c.315+299G>A NP_001336614.1:n.315+299G>A
NM_001349686.1:c.333+299G>A NP_001336615.1:n.333+299G>A
NM_001349687.1:c.318+314G>A NP_001336616.1:n.318+314G>A
NM_001349688.1:c.330+314G>A NP_001336617.1:n.330+314G>A
NM_001349689.1:c.348+299G>A NP_001336618.1:n.348+299G>A
NM_001349682.2:c.558+299G>A NP_001336611.1:n.558+299G>A
NM_001349683.2:c.345+299G>A NP_001336612.1:n.345+299G>A
NM_001349685.2:c.315+299G>A NP_001336614.1:n.315+299G>A
NM_001349686.2:c.333+299G>A NP_001336615.1:n.333+299G>A
NM_001349687.2:c.318+314G>A NP_001336616.1:n.318+314G>A
NM_001349688.2:c.330+314G>A NP_001336617.1:n.330+314G>A
NM_001349689.2:c.348+299G>A NP_001336618.1:n.348+299G>A
NM_014424.5:c.333+299G>A MANE Select NP_055239.1:n.333+299G>A