Canonical Allele Identifier: CA3250085
Gene: C7 HGNC NCBI
COSMIC:
COSM3761228 (not active)
COSM5830137 (not active)
MyVariant.info:
GRCh38 chr5:g.40964750A>C
GRCh37 chr5:g.40964852A>C
Revel Score:
ENST00000313164 (MANE Select) 0.048
ENST00000440677 0.048
gnomAD v2:
5:40964852 A / C
gnomAD v3:
5:40964750 A / C
gnomAD v4:
chr5-40964750-A-C
Joint Max Group AF 0.37067945 (SAS)
Genomes Max Group AF 0.35660553 (SAS)
Exomes Max Group AF 0.37076086 (SAS)
ClinVar RCV:
RCV001520303
RCV001529247
ClinVar Variation:
1169276
dbSNP:
13157656
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40964750A>C , CM000667.2:g.40964750A>C GRCh38
NC_000005.9:g.40964852A>C , CM000667.1:g.40964852A>C GRCh37
NC_000005.8:g.41000609A>C NCBI36
NG_011692.1:g.60254A>C , LRG_30:g.60254A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000486779.2:n.551A>C
ENST00000696333.1:c.1759A>C ENSP00000512566.1:p.Thr587Pro
ENST00000696441.1:c.1759A>C ENSP00000512631.1:p.Thr587Pro
ENST00000706664.1:n.1873A>C
ENST00000706666.1:n.1835A>C
ENST00000706667.1:n.2649A>C
ENST00000706668.1:n.2487A>C
ENST00000313164.10:c.1759A>C MANE Select ENSP00000322061.9:p.Thr587Pro
ENST00000313164.9:c.1759A>C ENSP00000322061.9:p.Thr587Pro
ENST00000486779.1:n.272A>C
NM_000587.2:c.1759A>C , LRG_30t1:c.1759A>C NP_000578.2:p.Thr587Pro
XM_011514122.1:c.1759A>C XP_011512424.1:p.Thr587Pro
NM_000587.3:c.1759A>C NP_000578.2:p.Thr587Pro
NM_000587.4:c.1759A>C MANE Select NP_000578.2:p.Thr587Pro
Search 100 bp 5'
Search 100 bp 3'