Canonical Allele Identifier: CA31440224

Gene: SDHC

Linked Data

• dbSNP Id: rs3935401
• gnomAD v3: 1-161363768-A-C
• gnomAD v4: 1-161363768-A-C
• MyVariant Identifiers: chr1:g.161333558A>C (hg19) ; chr1:g.161363768A>C (hg38)

Genomic Alleles

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

Transcript Alleles

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