Canonical Allele Identifier: CA374747317

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725192A>C (hg19) ; chr9:g.120962914A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962914A>C , CM000671.2:g.120962914A>C	GRCh38
NC_000009.11:g.123725192A>C , CM000671.1:g.123725192A>C	GRCh37
NC_000009.10:g.122765013A>C	NCBI36
NG_007364.1:g.92363T>G , LRG_28:g.92363T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1411T>G
ENST00000696279.1:c.4697T>G
ENST00000696280.1:n.4466T>G
ENST00000696281.1:c.4395T>G	ENSP00000512521.1:p.His1465Gln
ENST00000697921.1:n.3255T>G
ENST00000697922.1:c.*4367T>G	ENSP00000513478.1:n.*4367T>G
ENST00000697923.1:n.4822T>G
ENST00000223642.3:c.4377T>G MANE Select	ENSP00000223642.1:p.His1459Gln
ENST00000223642.2:c.4377T>G	ENSP00000223642.1:p.His1459Gln
NM_001735.2:c.4377T>G , LRG_28t1:c.4377T>G	NP_001726.2:p.His1459Gln
XM_011518980.1:c.4392T>G	XP_011517282.1:p.His1464Gln
NM_001317163.1:c.4395T>G	NP_001304092.1:p.His1465Gln
NM_001317163.2:c.4395T>G	NP_001304092.1:p.His1465Gln
NM_001735.3:c.4377T>G MANE Select	NP_001726.2:p.His1459Gln