Canonical Allele Identifier: CA3249894
Gene: C7 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.40955537A>G
GRCh37 chr5:g.40955639A>G
Revel Score:
ENST00000313164 (MANE Select) 0.212
ENST00000440677 0.212
gnomAD v2:
5:40955639 A / G
gnomAD v3:
5:40955537 A / G
gnomAD v4:
chr5-40955537-A-G
Joint Max Group AF 0.00005278 (NFE)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00005164 (NFE)
ClinVar RCV:
RCV001984446
RCV002479703
ClinVar Variation:
1493533
dbSNP:
370190257
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.40955537A>G , CM000667.2:g.40955537A>G GRCh38
NC_000005.9:g.40955639A>G , CM000667.1:g.40955639A>G GRCh37
NC_000005.8:g.40991396A>G NCBI36
NG_011692.1:g.51041A>G , LRG_30:g.51041A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696333.1:c.1244A>G ENSP00000512566.1:p.Gln415Arg
ENST00000696441.1:c.1244A>G ENSP00000512631.1:p.Gln415Arg
ENST00000706664.1:n.1358A>G
ENST00000706666.1:n.1320A>G
ENST00000706667.1:n.2134A>G
ENST00000706668.1:n.1972A>G
ENST00000313164.10:c.1244A>G MANE Select ENSP00000322061.9:p.Gln415Arg
ENST00000313164.9:c.1244A>G ENSP00000322061.9:p.Gln415Arg
NM_000587.2:c.1244A>G , LRG_30t1:c.1244A>G NP_000578.2:p.Gln415Arg
XM_011514122.1:c.1244A>G XP_011512424.1:p.Gln415Arg
NM_000587.3:c.1244A>G NP_000578.2:p.Gln415Arg
NM_000587.4:c.1244A>G MANE Select NP_000578.2:p.Gln415Arg
Search 100 bp 5'
Search 100 bp 3'