Canonical Allele Identifier: CA277884

Gene: SDHD

Linked Data

• ClinVar Variation Id: 218581
• ClinVar RCV Id: RCV000202919 ; RCV000575031 ; RCV001105197 ; RCV003103746
• dbSNP Id: rs146276662
• gnomAD v2: 11-111958646-A-C
• gnomAD v3: 11-112087922-A-C
• gnomAD v4: 11-112087922-A-C
• MyVariant Identifiers: chr11:g.111958646A>C (hg19) ; chr11:g.112087922A>C (hg38)
• PubMed: PMID:22829200

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112087922A>C , CM000673.2:g.112087922A>C	GRCh38
NC_000011.9:g.111958646A>C , CM000673.1:g.111958646A>C	GRCh37
NC_000011.8:g.111463856A>C	NCBI36
NG_012337.2:g.6076A>C
NG_033145.1:g.3877T>G
NG_012337.3:g.6076A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.118A>C	ENSP00000432946.2:p.Ile40Leu
ENST00000534010.2:c.118A>C	ENSP00000433202.2:p.Ile40Leu
ENST00000375549.8:c.118A>C MANE Select	ENSP00000364699.3:p.Ile40Leu
ENST00000528021.6:c.118A>C	ENSP00000432465.1:p.Ile40Leu
ENST00000640554.1:c.118A>C	ENSP00000491141.1:p.Ile40Leu
ENST00000375549.7:c.118A>C	ENSP00000364699.3:p.Ile40Leu
ENST00000525291.5:c.53-945A>C	ENSP00000436669.1:n.53-945A>C
ENST00000525987.5:n.123A>C
ENST00000526592.5:c.118A>C	ENSP00000432005.1:p.Ile40Leu
ENST00000528021.5:c.118A>C	ENSP00000432465.1:p.Ile40Leu
ENST00000528048.5:c.118A>C	ENSP00000436217.1:p.Ile40Leu
ENST00000528182.5:c.118A>C	ENSP00000435475.1:p.Ile40Leu
ENST00000530923.5:c.108A>C
ENST00000531744.5:c.118A>C	ENSP00000456957.1:p.Ile40Leu
ENST00000532699.1:c.118A>C	ENSP00000456434.1:p.Ile40Leu
ENST00000614349.4:c.118A>C	ENSP00000480666.1:p.Ile40Leu
NM_001276503.1:c.118A>C	NP_001263432.1:p.Ile40Leu
NM_001276504.1:c.53-945A>C	NP_001263433.1:n.53-945A>C
NM_001276506.1:c.118A>C	NP_001263435.1:p.Ile40Leu
NM_003002.3:c.118A>C	NP_002993.1:p.Ile40Leu
NR_077060.1:n.202A>C
NM_003002.4:c.118A>C MANE Select	NP_002993.1:p.Ile40Leu
NM_001276503.2:c.118A>C	NP_001263432.1:p.Ile40Leu
NM_001276504.2:c.53-945A>C	NP_001263433.1:n.53-945A>C
NM_001276506.2:c.118A>C	NP_001263435.1:p.Ile40Leu
NR_077060.2:n.153A>C