Canonical Allele Identifier: CA12999729
Gene: C5 HGNC NCBI
COSMIC:
COSN14868717 (not active)
MyVariant.info:
GRCh38 chr9:g.121019492G>A
GRCh37 chr9:g.123781770G>A
gnomAD v2:
9:123781770 G / A
gnomAD v3:
9:121019492 G / A
gnomAD v4:
chr9-121019492-G-A
Joint Max Group AF 0.72571263 (EAS)
Genomes Max Group AF 0.72571263 (EAS)
dbSNP:
992670
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.121019492G>A , CM000671.2:g.121019492G>A GRCh38
NC_000009.11:g.123781770G>A , CM000671.1:g.123781770G>A GRCh37
NC_000009.10:g.122821591G>A NCBI36
NG_007364.1:g.35785C>T , LRG_28:g.35785C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000466280.2:c.501+484C>T ENSP00000513491.1:n.501+484C>T
ENST00000696279.1:c.1826+484C>T
ENST00000696280.1:n.1595+484C>T
ENST00000696281.1:c.1524+484C>T ENSP00000512521.1:n.1524+484C>T
ENST00000697922.1:c.*1496+484C>T ENSP00000513478.1:n.*1496+484C>T
ENST00000697923.1:n.2111+484C>T
ENST00000223642.3:c.1506+484C>T MANE Select ENSP00000223642.1:n.1506+484C>T
ENST00000223642.2:c.1506+484C>T ENSP00000223642.1:n.1506+484C>T
NM_001735.2:c.1506+484C>T , LRG_28t1:c.1506+484C>T NP_001726.2:n.1506+484C>T
XM_011518980.1:c.1521+484C>T XP_011517282.1:n.1521+484C>T
XM_011518981.1:c.1524+484C>T XP_011517283.1:n.1524+484C>T
NM_001317163.1:c.1524+484C>T NP_001304092.1:n.1524+484C>T
NM_001317164.1:c.1506+484C>T NP_001304093.1:n.1506+484C>T
NM_001317163.2:c.1524+484C>T NP_001304092.1:n.1524+484C>T
NM_001317164.2:c.1506+484C>T NP_001304093.1:n.1506+484C>T
NM_001735.3:c.1506+484C>T MANE Select NP_001726.2:n.1506+484C>T
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