Canonical Allele Identifier: CA10608191
Gene: SDHC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.161363768A>G
GRCh37 chr1:g.161333558A>G
gnomAD v2:
1:161333558 A / G
gnomAD v3:
1:161363768 A / G
gnomAD v4:
chr1-161363768-A-G
Joint Max Group AF 0.26759471 (EAS)
Genomes Max Group AF 0.21255721 (AFR)
Exomes Max Group AF 0.29480371 (EAS)
ClinVar RCV:
RCV000338524
ClinVar Variation:
293347
dbSNP:
3935401
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.161363768A>G , CM000663.2:g.161363768A>G GRCh38
NC_000001.10:g.161333558A>G , CM000663.1:g.161333558A>G GRCh37
NC_000001.9:g.159600182A>G NCBI36
NG_012767.1:g.54393A>G , LRG_317:g.54393A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000367975.6:c.*1335A>G ENSP00000356953.2:n.*1335A>G
NM_001035511.1:c.*1228A>G NP_001030588.1:n.*1228A>G
NM_001035512.1:c.*1335A>G NP_001030589.1:n.*1335A>G
NM_001035513.1:c.*1335A>G NP_001030590.1:n.*1335A>G
NM_001278172.1:c.*1228A>G NP_001265101.1:n.*1228A>G
NM_003001.3:c.*1335A>G , LRG_317t1:c.*1335A>G NP_002992.1:n.*1335A>G
NR_103459.1:n.1902A>G
NM_001035511.2:c.*1228A>G NP_001030588.1:n.*1228A>G
NM_001035512.2:c.*1335A>G NP_001030589.1:n.*1335A>G
NM_001035513.2:c.*1335A>G NP_001030590.1:n.*1335A>G
NM_001278172.2:c.*1228A>G NP_001265101.1:n.*1228A>G
NR_103459.2:n.1897A>G
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