Canonical Allele Identifier: CA590502045

Gene: C5

Linked Data

• dbSNP Id: rs1239966174
• gnomAD v2: 9-123724931-T-A
• gnomAD v3: 9-120962653-T-A
• gnomAD v4: 9-120962653-T-A
• MyVariant Identifiers: chr9:g.123724931T>A (hg19) ; chr9:g.120962653T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962653T>A , CM000671.2:g.120962653T>A	GRCh38
NC_000009.11:g.123724931T>A , CM000671.1:g.123724931T>A	GRCh37
NC_000009.10:g.122764752T>A	NCBI36
NG_007364.1:g.92624A>T , LRG_28:g.92624A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.1538+18A>T
ENST00000696279.1:c.4824+18A>T
ENST00000696280.1:n.4593+18A>T
ENST00000696281.1:c.4522+18A>T	ENSP00000512521.1:n.4522+18A>T
ENST00000697921.1:n.3382+18A>T
ENST00000697922.1:c.*4494+18A>T	ENSP00000513478.1:n.*4494+18A>T
ENST00000697923.1:n.4949+18A>T
ENST00000223642.3:c.4504+18A>T MANE Select	ENSP00000223642.1:n.4504+18A>T
ENST00000223642.2:c.4504+18A>T	ENSP00000223642.1:n.4504+18A>T
ENST00000480188.1:n.37+18A>T
NM_001735.2:c.4504+18A>T , LRG_28t1:c.4504+18A>T	NP_001726.2:n.4504+18A>T
XM_011518980.1:c.4519+18A>T	XP_011517282.1:n.4519+18A>T
NM_001317163.1:c.4522+18A>T	NP_001304092.1:n.4522+18A>T
NM_001317163.2:c.4522+18A>T	NP_001304092.1:n.4522+18A>T
NM_001735.3:c.4504+18A>T MANE Select	NP_001726.2:n.4504+18A>T