Canonical Allele Identifier: CA070951

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1091749
• ClinVar RCV Id: RCV002243115 ; RCV002432136
• dbSNP Id: rs761615413
• ExAC: 11:111959685 C / T
• gnomAD v2: 11-111959685-C-T
• gnomAD v3: 11-112088961-C-T
• gnomAD v4: 11-112088961-C-T
• MyVariant Identifiers: chr11:g.111959685C>T (hg19) ; chr11:g.112088961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088961C>T , CM000673.2:g.112088961C>T	GRCh38
NC_000011.9:g.111959685C>T , CM000673.1:g.111959685C>T	GRCh37
NC_000011.8:g.111464895C>T	NCBI36
NG_012337.2:g.7115C>T
NG_033145.1:g.2838G>A
NG_012337.3:g.7115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.264C>T	ENSP00000432946.2:p.Cys88=
ENST00000534010.2:c.264C>T	ENSP00000433202.2:p.Cys88=
ENST00000375549.8:c.264C>T MANE Select	ENSP00000364699.3:p.Cys88=
ENST00000528021.6:c.264C>T	ENSP00000432465.1:p.Cys88=
ENST00000640554.1:c.*336C>T	ENSP00000491141.1:n.*336C>T
ENST00000375549.7:c.264C>T	ENSP00000364699.3:p.Cys88=
ENST00000525291.5:c.147C>T	ENSP00000436669.1:p.Cys49=
ENST00000525987.5:n.269C>T
ENST00000526592.5:c.264C>T	ENSP00000432005.1:p.Cys88=
ENST00000528021.5:c.264C>T	ENSP00000432465.1:p.Cys88=
ENST00000528048.5:c.169+988C>T	ENSP00000436217.1:n.169+988C>T
ENST00000528182.5:c.264C>T	ENSP00000435475.1:p.Cys88=
ENST00000530923.5:c.254C>T
ENST00000531744.5:c.264C>T	ENSP00000456957.1:p.Cys88=
ENST00000532699.1:c.264C>T	ENSP00000456434.1:p.Cys88=
ENST00000534010.1:c.95C>T
ENST00000614349.4:c.264C>T	ENSP00000480666.1:p.Cys88=
NM_001276503.1:c.169+988C>T	NP_001263432.1:n.169+988C>T
NM_001276504.1:c.147C>T	NP_001263433.1:p.Cys49=
NM_001276506.1:c.264C>T	NP_001263435.1:p.Cys88=
NM_003002.3:c.264C>T	NP_002993.1:p.Cys88=
NR_077060.1:n.348C>T
NM_003002.4:c.264C>T MANE Select	NP_002993.1:p.Cys88=
NM_001276503.2:c.169+988C>T	NP_001263432.1:n.169+988C>T
NM_001276504.2:c.147C>T	NP_001263433.1:p.Cys49=
NM_001276506.2:c.264C>T	NP_001263435.1:p.Cys88=
NR_077060.2:n.299C>T