Canonical Allele Identifier: CA476790373

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1787061
• ClinVar RCV Id: RCV002432711 ; RCV003101103
• dbSNP Id: rs1592780438
• COSMIC: COSM415342
• MyVariant Identifiers: chr11:g.111959637C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088913C>T , CM000673.2:g.112088913C>T	GRCh38
NC_000011.9:g.111959637C>T , CM000673.1:g.111959637C>T	GRCh37
NC_000011.8:g.111464847C>T	NCBI36
NG_012337.2:g.7067C>T
NG_033145.1:g.2886G>A
NG_012337.3:g.7067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.216C>T	ENSP00000432946.2:p.Val72=
ENST00000534010.2:c.216C>T	ENSP00000433202.2:p.Val72=
ENST00000375549.8:c.216C>T MANE Select	ENSP00000364699.3:p.Val72=
ENST00000528021.6:c.216C>T	ENSP00000432465.1:p.Val72=
ENST00000640554.1:c.*288C>T	ENSP00000491141.1:n.*288C>T
ENST00000375549.7:c.216C>T	ENSP00000364699.3:p.Val72=
ENST00000525291.5:c.99C>T	ENSP00000436669.1:p.Val33=
ENST00000525987.5:n.221C>T
ENST00000526592.5:c.216C>T	ENSP00000432005.1:p.Val72=
ENST00000528021.5:c.216C>T	ENSP00000432465.1:p.Val72=
ENST00000528048.5:c.169+940C>T	ENSP00000436217.1:n.169+940C>T
ENST00000528182.5:c.216C>T	ENSP00000435475.1:p.Val72=
ENST00000530923.5:c.206C>T
ENST00000531744.5:c.216C>T	ENSP00000456957.1:p.Val72=
ENST00000532699.1:c.216C>T	ENSP00000456434.1:p.Val72=
ENST00000534010.1:c.47C>T
ENST00000614349.4:c.216C>T	ENSP00000480666.1:p.Val72=
NM_001276503.1:c.169+940C>T	NP_001263432.1:n.169+940C>T
NM_001276504.1:c.99C>T	NP_001263433.1:p.Val33=
NM_001276506.1:c.216C>T	NP_001263435.1:p.Val72=
NM_003002.3:c.216C>T	NP_002993.1:p.Val72=
NR_077060.1:n.300C>T
NM_003002.4:c.216C>T MANE Select	NP_002993.1:p.Val72=
NM_001276503.2:c.169+940C>T	NP_001263432.1:n.169+940C>T
NM_001276504.2:c.99C>T	NP_001263433.1:p.Val33=
NM_001276506.2:c.216C>T	NP_001263435.1:p.Val72=
NR_077060.2:n.251C>T