Canonical Allele Identifier: CA10661615
Gene: HSPB7 HGNC NCBI
dbSNP:
1048261
gnomAD v2:
1:16340951 A / T
gnomAD v3:
1:16014456 A / T
gnomAD v4:
chr1-16014456-A-T
Joint Max Group AF 0.9527058 (EAS)
Genomes Max Group AF 0.9527058 (EAS)
Exomes Max Group AF 0.38447859 (NFE)
MyVariant.info:
GRCh38 chr1:g.16014456A>T
GRCh37 chr1:g.16340951A>T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.16014456A>T , CM000663.2:g.16014456A>T GRCh38
NC_000001.10:g.16340951A>T , CM000663.1:g.16340951A>T GRCh37
NC_000001.9:g.16213538A>T NCBI36
NG_053133.1:g.9341T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000311890.14:c.*1124T>A MANE Select ENSP00000310111.9:n.*1124T>A
ENST00000311890.13:c.*1124T>A ENSP00000310111.9:n.*1124T>A
ENST00000375718.4:c.*1124T>A ENSP00000364870.4:n.*1124T>A
ENST00000411503.5:c.*1124T>A ENSP00000391578.1:n.*1124T>A
ENST00000442459.2:n.2274T>A
NM_014424.4:c.*1124T>A NP_055239.1:n.*1124T>A
XM_011541249.1:c.*1124T>A XP_011539551.1:n.*1124T>A
XM_011541250.1:c.*1124T>A XP_011539552.1:n.*1124T>A
NM_001349682.1:c.*1124T>A NP_001336611.1:n.*1124T>A
NM_001349683.1:c.*1124T>A NP_001336612.1:n.*1124T>A
NM_001349685.1:c.*1124T>A NP_001336614.1:n.*1124T>A
NM_001349686.1:c.*1124T>A NP_001336615.1:n.*1124T>A
NM_001349687.1:c.*1124T>A NP_001336616.1:n.*1124T>A
NM_001349688.1:c.*1124T>A NP_001336617.1:n.*1124T>A
NM_001349689.1:c.*1124T>A NP_001336618.1:n.*1124T>A
NM_001349682.2:c.*1124T>A NP_001336611.1:n.*1124T>A
NM_001349683.2:c.*1124T>A NP_001336612.1:n.*1124T>A
NM_001349685.2:c.*1124T>A NP_001336614.1:n.*1124T>A
NM_001349686.2:c.*1124T>A NP_001336615.1:n.*1124T>A
NM_001349687.2:c.*1124T>A NP_001336616.1:n.*1124T>A
NM_001349688.2:c.*1124T>A NP_001336617.1:n.*1124T>A
NM_001349689.2:c.*1124T>A NP_001336618.1:n.*1124T>A
NM_014424.5:c.*1124T>A MANE Select NP_055239.1:n.*1124T>A
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