Canonical Allele Identifier: CA31439539

Gene: SDHC

Linked Data

• dbSNP Id: rs4488054
• gnomAD v4: 1-161362850-G-A
• MyVariant Identifiers: chr1:g.161332640G>A (hg19) ; chr1:g.161362850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161362850G>A , CM000663.2:g.161362850G>A	GRCh38
NC_000001.10:g.161332640G>A , CM000663.1:g.161332640G>A	GRCh37
NC_000001.9:g.159599264G>A	NCBI36
NG_012767.1:g.53475G>A , LRG_317:g.53475G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470743.5:c.*928G>A	ENSP00000482902.2:n.*928G>A
ENST00000367975.7:c.*417G>A MANE Select	ENSP00000356953.3:n.*417G>A
ENST00000342751.8:c.*310G>A	ENSP00000356952.3:n.*310G>A
ENST00000367975.6:c.*417G>A	ENSP00000356953.2:n.*417G>A
NM_001035511.1:c.*310G>A	NP_001030588.1:n.*310G>A
NM_001035512.1:c.*417G>A	NP_001030589.1:n.*417G>A
NM_001035513.1:c.*417G>A	NP_001030590.1:n.*417G>A
NM_001278172.1:c.*310G>A	NP_001265101.1:n.*310G>A
NM_003001.3:c.*417G>A , LRG_317t1:c.*417G>A	NP_002992.1:n.*417G>A
NR_103459.1:n.984G>A
NM_001035511.2:c.*310G>A	NP_001030588.1:n.*310G>A
NM_001035512.2:c.*417G>A	NP_001030589.1:n.*417G>A
NM_001035513.2:c.*417G>A	NP_001030590.1:n.*417G>A
NM_001278172.2:c.*310G>A	NP_001265101.1:n.*310G>A
NM_003001.5:c.*417G>A MANE Select	NP_002992.1:n.*417G>A
NR_103459.2:n.979G>A