Canonical Allele Identifier: CA890084536

Gene: HSPB7

Linked Data

• dbSNP Id: rs1046458307
• gnomAD v3: 1-16016691-C-G
• gnomAD v4: 1-16016691-C-G
• MyVariant Identifiers: chr1:g.16343186C>G (hg19) ; chr1:g.16016691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.16016691C>G , CM000663.2:g.16016691C>G	GRCh38
NC_000001.10:g.16343186C>G , CM000663.1:g.16343186C>G	GRCh37
NC_000001.9:g.16215773C>G	NCBI36
NG_053133.1:g.7106G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000311890.14:c.333+383G>C MANE Select	ENSP00000310111.9:n.333+383G>C
ENST00000311890.13:c.333+383G>C	ENSP00000310111.9:n.333+383G>C
ENST00000375718.4:c.558+383G>C	ENSP00000364870.4:n.558+383G>C
ENST00000406363.2:c.345+383G>C	ENSP00000385472.2:n.345+383G>C
ENST00000411503.5:c.318+398G>C	ENSP00000391578.1:n.318+398G>C
ENST00000442459.2:n.970+383G>C
ENST00000463576.5:c.195+398G>C	ENSP00000417966.1:n.195+398G>C
ENST00000487046.1:c.348+383G>C	ENSP00000419477.1:n.348+383G>C
NM_014424.4:c.333+383G>C	NP_055239.1:n.333+383G>C
XM_011541249.1:c.612+383G>C	XP_011539551.1:n.612+383G>C
XM_011541250.1:c.609+383G>C	XP_011539552.1:n.609+383G>C
NM_001349682.1:c.558+383G>C	NP_001336611.1:n.558+383G>C
NM_001349683.1:c.345+383G>C	NP_001336612.1:n.345+383G>C
NM_001349685.1:c.315+383G>C	NP_001336614.1:n.315+383G>C
NM_001349686.1:c.333+383G>C	NP_001336615.1:n.333+383G>C
NM_001349687.1:c.318+398G>C	NP_001336616.1:n.318+398G>C
NM_001349688.1:c.330+398G>C	NP_001336617.1:n.330+398G>C
NM_001349689.1:c.348+383G>C	NP_001336618.1:n.348+383G>C
NM_001349682.2:c.558+383G>C	NP_001336611.1:n.558+383G>C
NM_001349683.2:c.345+383G>C	NP_001336612.1:n.345+383G>C
NM_001349685.2:c.315+383G>C	NP_001336614.1:n.315+383G>C
NM_001349686.2:c.333+383G>C	NP_001336615.1:n.333+383G>C
NM_001349687.2:c.318+398G>C	NP_001336616.1:n.318+398G>C
NM_001349688.2:c.330+398G>C	NP_001336617.1:n.330+398G>C
NM_001349689.2:c.348+383G>C	NP_001336618.1:n.348+383G>C
NM_014424.5:c.333+383G>C MANE Select	NP_055239.1:n.333+383G>C