Canonical Allele Identifier: CA070888

Gene: SDHD

Linked Data

• ClinVar Variation Id: 1352132
• ClinVar RCV Id: RCV002047366
• dbSNP Id: rs777963699
• ExAC: 11:111959651 T / C
• gnomAD v2: 11-111959651-T-C
• gnomAD v4: 11-112088927-T-C
• MyVariant Identifiers: chr11:g.111959651T>C (hg19) ; chr11:g.112088927T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112088927T>C , CM000673.2:g.112088927T>C	GRCh38
NC_000011.9:g.111959651T>C , CM000673.1:g.111959651T>C	GRCh37
NC_000011.8:g.111464861T>C	NCBI36
NG_012337.2:g.7081T>C
NG_033145.1:g.2872A>G
NG_012337.3:g.7081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.230T>C	ENSP00000432946.2:p.Leu77Pro
ENST00000534010.2:c.230T>C	ENSP00000433202.2:p.Leu77Pro
ENST00000375549.8:c.230T>C MANE Select	ENSP00000364699.3:p.Leu77Pro
ENST00000528021.6:c.230T>C	ENSP00000432465.1:p.Leu77Pro
ENST00000640554.1:c.*302T>C	ENSP00000491141.1:n.*302T>C
ENST00000375549.7:c.230T>C	ENSP00000364699.3:p.Leu77Pro
ENST00000525291.5:c.113T>C	ENSP00000436669.1:p.Leu38Pro
ENST00000525987.5:n.235T>C
ENST00000526592.5:c.230T>C	ENSP00000432005.1:p.Leu77Pro
ENST00000528021.5:c.230T>C	ENSP00000432465.1:p.Leu77Pro
ENST00000528048.5:c.169+954T>C	ENSP00000436217.1:n.169+954T>C
ENST00000528182.5:c.230T>C	ENSP00000435475.1:p.Leu77Pro
ENST00000530923.5:c.220T>C
ENST00000531744.5:c.230T>C	ENSP00000456957.1:p.Leu77Pro
ENST00000532699.1:c.230T>C	ENSP00000456434.1:p.Leu77Pro
ENST00000534010.1:c.61T>C
ENST00000614349.4:c.230T>C	ENSP00000480666.1:p.Leu77Pro
NM_001276503.1:c.169+954T>C	NP_001263432.1:n.169+954T>C
NM_001276504.1:c.113T>C	NP_001263433.1:p.Leu38Pro
NM_001276506.1:c.230T>C	NP_001263435.1:p.Leu77Pro
NM_003002.3:c.230T>C	NP_002993.1:p.Leu77Pro
NR_077060.1:n.314T>C
NM_003002.4:c.230T>C MANE Select	NP_002993.1:p.Leu77Pro
NM_001276503.2:c.169+954T>C	NP_001263432.1:n.169+954T>C
NM_001276504.2:c.113T>C	NP_001263433.1:p.Leu38Pro
NM_001276506.2:c.230T>C	NP_001263435.1:p.Leu77Pro
NR_077060.2:n.265T>C