Canonical Allele Identifier: CA374747477

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123725203T>G (hg19) ; chr9:g.120962925T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120962925T>G , CM000671.2:g.120962925T>G	GRCh38
NC_000009.11:g.123725203T>G , CM000671.1:g.123725203T>G	GRCh37
NC_000009.10:g.122765024T>G	NCBI36
NG_007364.1:g.92352A>C , LRG_28:g.92352A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.1400A>C
ENST00000696279.1:c.4686A>C
ENST00000696280.1:n.4455A>C
ENST00000696281.1:c.4384A>C	ENSP00000512521.1:p.Lys1462Gln
ENST00000697921.1:n.3244A>C
ENST00000697922.1:c.*4356A>C	ENSP00000513478.1:n.*4356A>C
ENST00000697923.1:n.4811A>C
ENST00000223642.3:c.4366A>C MANE Select	ENSP00000223642.1:p.Lys1456Gln
ENST00000223642.2:c.4366A>C	ENSP00000223642.1:p.Lys1456Gln
NM_001735.2:c.4366A>C , LRG_28t1:c.4366A>C	NP_001726.2:p.Lys1456Gln
XM_011518980.1:c.4381A>C	XP_011517282.1:p.Lys1461Gln
NM_001317163.1:c.4384A>C	NP_001304092.1:p.Lys1462Gln
NM_001317163.2:c.4384A>C	NP_001304092.1:p.Lys1462Gln
NM_001735.3:c.4366A>C MANE Select	NP_001726.2:p.Lys1456Gln