Canonical Allele Identifier: CA998968501
Gene: HSPB7 HGNC NCBI

Linked Data

dbSNP Id: rs2021747827
gnomAD v3: 1-16016650-A-G
gnomAD v4: 1-16016650-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16016650A>G , CM000663.2:g.16016650A>G GRCh38
NC_000001.10:g.16343145A>G , CM000663.1:g.16343145A>G GRCh37
NC_000001.9:g.16215732A>G NCBI36
NG_053133.1:g.7147T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000311890.14:c.333+424T>C MANE Select ENSP00000310111.9:n.333+424T>C
ENST00000311890.13:c.333+424T>C ENSP00000310111.9:n.333+424T>C
ENST00000375718.4:c.558+424T>C ENSP00000364870.4:n.558+424T>C
ENST00000406363.2:c.345+424T>C ENSP00000385472.2:n.345+424T>C
ENST00000411503.5:c.318+439T>C ENSP00000391578.1:n.318+439T>C
ENST00000442459.2:n.970+424T>C
ENST00000463576.5:c.195+439T>C ENSP00000417966.1:n.195+439T>C
ENST00000487046.1:c.348+424T>C ENSP00000419477.1:n.348+424T>C
NM_014424.4:c.333+424T>C NP_055239.1:n.333+424T>C
XM_011541249.1:c.612+424T>C XP_011539551.1:n.612+424T>C
XM_011541250.1:c.609+424T>C XP_011539552.1:n.609+424T>C
NM_001349682.1:c.558+424T>C NP_001336611.1:n.558+424T>C
NM_001349683.1:c.345+424T>C NP_001336612.1:n.345+424T>C
NM_001349685.1:c.315+424T>C NP_001336614.1:n.315+424T>C
NM_001349686.1:c.333+424T>C NP_001336615.1:n.333+424T>C
NM_001349687.1:c.318+439T>C NP_001336616.1:n.318+439T>C
NM_001349688.1:c.330+439T>C NP_001336617.1:n.330+439T>C
NM_001349689.1:c.348+424T>C NP_001336618.1:n.348+424T>C
NM_001349682.2:c.558+424T>C NP_001336611.1:n.558+424T>C
NM_001349683.2:c.345+424T>C NP_001336612.1:n.345+424T>C
NM_001349685.2:c.315+424T>C NP_001336614.1:n.315+424T>C
NM_001349686.2:c.333+424T>C NP_001336615.1:n.333+424T>C
NM_001349687.2:c.318+439T>C NP_001336616.1:n.318+439T>C
NM_001349688.2:c.330+439T>C NP_001336617.1:n.330+439T>C
NM_001349689.2:c.348+424T>C NP_001336618.1:n.348+424T>C
NM_014424.5:c.333+424T>C MANE Select NP_055239.1:n.333+424T>C