Canonical Allele Identifier: CA4191769

Gene: GSDME

Linked Data

• ClinVar Variation Id: 359857
• ClinVar RCV Id: RCV002286731
• dbSNP Id: rs202227661
• ExAC: 7:24784260 C / T
• gnomAD v2: 7-24784260-C-T
• gnomAD v3: 7-24744641-C-T
• gnomAD v4: 7-24744641-C-T
• COSMIC: COSM1549307
• MyVariant Identifiers: chr7:g.24784260C>T (hg19) ; chr7:g.24744641C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24744641C>T , CM000669.2:g.24744641C>T	GRCh38
NC_000007.13:g.24784260C>T , CM000669.1:g.24784260C>T	GRCh37
NC_000007.12:g.24750785C>T	NCBI36
NG_011593.1:g.18380G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342947.9:c.325G>A	ENSP00000339587.3:p.Val109Ile
ENST00000409970.6:c.-168G>A	ENSP00000387119.1:n.-168G>A
ENST00000411476.3:n.94G>A
ENST00000414428.2:c.325G>A	ENSP00000413963.2:p.Val109Ile
ENST00000419307.6:c.-168G>A	ENSP00000401332.1:n.-168G>A
ENST00000473990.2:n.345G>A
ENST00000645220.1:c.325G>A MANE Select	ENSP00000494186.1:p.Val109Ile
ENST00000342947.7:c.325G>A	ENSP00000339587.3:p.Val109Ile
ENST00000409775.7:c.325G>A	ENSP00000386670.3:p.Val109Ile
ENST00000409970.5:c.-168G>A	ENSP00000387119.1:n.-168G>A
ENST00000411476.2:c.94G>A	ENSP00000414090.2:p.Val32Ile
ENST00000414428.1:c.-168G>A	ENSP00000413963.1:n.-168G>A
ENST00000419307.5:c.-168G>A	ENSP00000401332.1:n.-168G>A
ENST00000473990.1:n.345G>A
ENST00000493723.5:n.344G>A
NM_001127453.1:c.325G>A	NP_001120925.1:p.Val109Ile
NM_001127454.1:c.-168G>A	NP_001120926.1:n.-168G>A
NM_004403.2:c.325G>A	NP_004394.1:p.Val109Ile
XM_017011802.1:c.-168G>A	XP_016867291.1:n.-168G>A
XM_024446670.1:c.325G>A	XP_024302438.1:p.Val109Ile
NM_004403.3:c.325G>A	NP_004394.1:p.Val109Ile
NM_001127453.2:c.325G>A MANE Select	NP_001120925.1:p.Val109Ile
NM_001127454.2:c.-168G>A	NP_001120926.1:n.-168G>A