Canonical Allele Identifier: CA3249880
Gene: C7 HGNC NCBI
COSMIC:
COSM3761227 (not active)
COSM5830136 (not active)
MyVariant.info:
GRCh38 chr5:g.40955459G>C
GRCh37 chr5:g.40955561G>C
Revel Score:
ENST00000313164 (MANE Select) 0.167
ENST00000440677 0.167
gnomAD v2:
5:40955561 G / C
gnomAD v3:
5:40955459 G / C
gnomAD v4:
chr5-40955459-G-C
Joint Max Group AF 0.59824878 (MID)
Genomes Max Group AF 0.59125633 (NFE)
Exomes Max Group AF 0.59676349 (MID)
ClinVar RCV:
RCV001520302
RCV001529192
ClinVar Variation:
1169275
dbSNP:
1063499
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40955459G>C , CM000667.2:g.40955459G>C GRCh38
NC_000005.9:g.40955561G>C , CM000667.1:g.40955561G>C GRCh37
NC_000005.8:g.40991318G>C NCBI36
NG_011692.1:g.50963G>C , LRG_30:g.50963G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696333.1:c.1166G>C ENSP00000512566.1:p.Ser389Thr
ENST00000696441.1:c.1166G>C ENSP00000512631.1:p.Ser389Thr
ENST00000706664.1:n.1280G>C
ENST00000706666.1:n.1242G>C
ENST00000706667.1:n.2056G>C
ENST00000706668.1:n.1894G>C
ENST00000313164.10:c.1166G>C MANE Select ENSP00000322061.9:p.Ser389Thr
ENST00000313164.9:c.1166G>C ENSP00000322061.9:p.Ser389Thr
NM_000587.2:c.1166G>C , LRG_30t1:c.1166G>C NP_000578.2:p.Ser389Thr
XM_011514122.1:c.1166G>C XP_011512424.1:p.Ser389Thr
NM_000587.3:c.1166G>C NP_000578.2:p.Ser389Thr
NM_000587.4:c.1166G>C MANE Select NP_000578.2:p.Ser389Thr
Search 100 bp 5'
Search 100 bp 3'