Canonical Allele Identifier: CA12780909

Gene: HSF1

Linked Data

• dbSNP Id: rs4977219
• gnomAD v2: 8-145516698-C-A
• gnomAD v3: 8-144293016-C-A
• gnomAD v4: 8-144293016-C-A
• MyVariant Identifiers: chr8:g.145516698C>A (hg19) ; chr8:g.144293016C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144293016C>A , CM000670.2:g.144293016C>A	GRCh38
NC_000008.10:g.145516698C>A , CM000670.1:g.145516698C>A	GRCh37
NC_000008.9:g.145487506C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000528838.6:c.117+1142C>A MANE Select	ENSP00000431512.1:n.117+1142C>A
ENST00000400780.8:c.117+1142C>A	ENSP00000383590.5:n.117+1142C>A
ENST00000528838.5:c.117+1142C>A	ENSP00000431512.1:n.117+1142C>A
ENST00000528988.1:c.*59+397C>A	ENSP00000481007.1:n.*59+397C>A
ENST00000533240.5:c.-77+368C>A	ENSP00000436616.1:n.-77+368C>A
NM_005526.2:c.117+1142C>A	NP_005517.1:n.117+1142C>A
XM_005272315.1:c.117+1142C>A	XP_005272372.1:n.117+1142C>A
XM_005272316.1:c.117+1142C>A	XP_005272373.1:n.117+1142C>A
XM_005272317.1:c.117+1142C>A	XP_005272374.1:n.117+1142C>A
XM_011517005.1:c.117+1142C>A	XP_011515307.1:n.117+1142C>A
XR_246618.2:n.287+1142C>A
NM_005526.3:c.117+1142C>A	NP_005517.1:n.117+1142C>A
XM_005272315.3:c.117+1142C>A	XP_005272372.1:n.117+1142C>A
XM_005272316.3:c.117+1142C>A	XP_005272373.1:n.117+1142C>A
XM_005272317.2:c.117+1142C>A	XP_005272374.1:n.117+1142C>A
XM_017013377.2:c.117+1142C>A	XP_016868866.1:n.117+1142C>A
XM_024447144.1:c.-441+1142C>A	XP_024302912.1:n.-441+1142C>A
XR_001745526.2:n.272+1142C>A
XR_001745527.2:n.272+1142C>A
XR_246618.4:n.272+1142C>A
NM_005526.4:c.117+1142C>A MANE Select	NP_005517.1:n.117+1142C>A