Canonical Allele Identifier: CA046000

Gene: SDHC

Linked Data

• dbSNP Id: rs777544911
• ExAC: 1:161298331 G / A
• gnomAD v2: 1-161298331-G-A
• gnomAD v4: 1-161328541-G-A
• MyVariant Identifiers: chr1:g.161298331G>A (hg19) ; chr1:g.161328541G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161328541G>A , CM000663.2:g.161328541G>A	GRCh38
NC_000001.10:g.161298331G>A , CM000663.1:g.161298331G>A	GRCh37
NC_000001.9:g.159564955G>A	NCBI36
NG_012767.1:g.19166G>A , LRG_317:g.19166G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470743.5:c.*180+44G>A	ENSP00000482902.2:n.*180+44G>A
ENST00000367975.7:c.179+44G>A MANE Select	ENSP00000356953.3:n.179+44G>A
ENST00000342751.8:c.179+44G>A	ENSP00000356952.3:n.179+44G>A
ENST00000367975.6:c.179+44G>A	ENSP00000356953.2:n.179+44G>A
ENST00000392169.6:c.21-12053G>A	ENSP00000376009.2:n.21-12053G>A
ENST00000432287.6:c.77+4871G>A	ENSP00000390558.2:n.77+4871G>A
ENST00000470743.4:c.277+44G>A
ENST00000504963.5:c.179+44G>A	ENSP00000423929.1:n.179+44G>A
ENST00000513009.5:c.77+4871G>A	ENSP00000423260.1:n.77+4871G>A
NM_001035511.1:c.179+44G>A	NP_001030588.1:n.179+44G>A
NM_001035512.1:c.77+4871G>A	NP_001030589.1:n.77+4871G>A
NM_001035513.1:c.21-12053G>A	NP_001030590.1:n.21-12053G>A
NM_001278172.1:c.77+4871G>A	NP_001265101.1:n.77+4871G>A
NM_003001.3:c.179+44G>A , LRG_317t1:c.179+44G>A	NP_002992.1:n.179+44G>A
NR_103459.1:n.209+44G>A
NM_001035511.2:c.179+44G>A	NP_001030588.1:n.179+44G>A
NM_001035512.2:c.77+4871G>A	NP_001030589.1:n.77+4871G>A
NM_001035513.2:c.21-12053G>A	NP_001030590.1:n.21-12053G>A
NM_001278172.2:c.77+4871G>A	NP_001265101.1:n.77+4871G>A
NM_003001.5:c.179+44G>A MANE Select	NP_002992.1:n.179+44G>A
NR_103459.2:n.204+44G>A