Canonical Allele Identifier: CA5216999
Gene: C5 HGNC NCBI
C5-OT1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.120952765C>T
GRCh37 chr9:g.123715043C>T
Revel Score:
ENST00000223642 (MANE Select) 0.199
gnomAD v2:
9:123715043 C / T
gnomAD v3:
9:120952765 C / T
gnomAD v4:
chr9-120952765-C-T
Joint Max Group AF 0.00003472 (AFR)
Genomes Max Group AF 0.00003762 (NFE)
Exomes Max Group AF 0.00003085 (NFE)
ClinVar Allele:
1422852
ClinVar RCV:
RCV001923773
RCV002484556
ClinVar Variation:
1421436
dbSNP:
758052311
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120952765C>T , CM000671.2:g.120952765C>T GRCh38
NC_000009.11:g.123715043C>T , CM000671.1:g.123715043C>T GRCh37
NC_000009.10:g.122754864C>T NCBI36
NG_007364.1:g.102512G>A , LRG_28:g.102512G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480188.2:n.6316G>A (C5)
ENST00000696279.1:c.5325G>A (C5)
ENST00000696280.1:n.5094G>A (C5)
ENST00000696281.1:c.5023G>A (C5) ENSP00000512521.1:p.Glu1675Lys
ENST00000697921.1:n.3883G>A (C5)
ENST00000697922.1:c.*4995G>A (C5) ENSP00000513478.1:n.*4995G>A
ENST00000697923.1:n.8866G>A (C5)
ENST00000223642.3:c.5005G>A (C5) MANE Select ENSP00000223642.1:p.Glu1669Lys
ENST00000223642.2:c.5005G>A (C5) ENSP00000223642.1:p.Glu1669Lys
NM_001735.2:c.5005G>A , LRG_28t1:c.5005G>A (C5) NP_001726.2:p.Glu1669Lys
XM_011518980.1:c.5020G>A (C5) XP_011517282.1:p.Glu1674Lys
NM_001317163.1:c.5023G>A (C5) NP_001304092.1:p.Glu1675Lys
NR_148450.1:n.67G>A (C5-OT1)
NM_001317163.2:c.5023G>A (C5) NP_001304092.1:p.Glu1675Lys
NM_001735.3:c.5005G>A (C5) MANE Select NP_001726.2:p.Glu1669Lys
Search 100 bp 5'
Search 100 bp 3'