Canonical Allele Identifier: CA199349689

Gene: C5

Linked Data

• dbSNP Id: rs1050116517
• gnomAD v3: 9-120980598-T-TC
• gnomAD v4: 9-120980598-T-TC
• MyVariant Identifiers: chr9:g.123742876_123742877insC (hg19) ; chr9:g.120980598_120980599insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980599dup , CM000671.2:g.120980599dup	GRCh38
NC_000009.11:g.123742877dup , CM000671.1:g.123742877dup	GRCh37
NC_000009.10:g.122782698dup	NCBI36
NG_007364.1:g.74678dup , LRG_28:g.74678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.398-345dup
ENST00000696279.1:c.3807-345dup
ENST00000696280.1:n.3576-345dup
ENST00000696281.1:c.3505-345dup	ENSP00000512521.1:n.3505-345dup
ENST00000697921.1:n.2365-345dup
ENST00000697922.1:c.*3477-345dup	ENSP00000513478.1:n.*3477-345dup
ENST00000697923.1:n.3932-345dup
ENST00000223642.3:c.3487-345dup MANE Select	ENSP00000223642.1:n.3487-345dup
ENST00000223642.2:c.3487-345dup	ENSP00000223642.1:n.3487-345dup
ENST00000489802.1:n.50-345dup
NM_001735.2:c.3487-345dup , LRG_28t1:c.3487-345dup	NP_001726.2:n.3487-345dup
XM_011518980.1:c.3502-345dup	XP_011517282.1:n.3502-345dup
NM_001317163.1:c.3505-345dup	NP_001304092.1:n.3505-345dup
NM_001317163.2:c.3505-345dup	NP_001304092.1:n.3505-345dup
NM_001735.3:c.3487-345dup MANE Select	NP_001726.2:n.3487-345dup