Canonical Allele Identifier: CA374725413

Gene: C5

Linked Data

• MyVariant Identifiers: chr9:g.123737062C>A (hg19) ; chr9:g.120974784C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120974784C>A , CM000671.2:g.120974784C>A	GRCh38
NC_000009.11:g.123737062C>A , CM000671.1:g.123737062C>A	GRCh37
NC_000009.10:g.122776883C>A	NCBI36
NG_007364.1:g.80493G>T , LRG_28:g.80493G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480188.2:n.923G>T
ENST00000696279.1:c.4332G>T
ENST00000696280.1:n.4101G>T
ENST00000696281.1:c.4030G>T	ENSP00000512521.1:p.Val1344Leu
ENST00000697921.1:n.2890G>T
ENST00000697922.1:c.*4002G>T	ENSP00000513478.1:n.*4002G>T
ENST00000697923.1:n.4457G>T
ENST00000223642.3:c.4012G>T MANE Select	ENSP00000223642.1:p.Val1338Leu
ENST00000223642.2:c.4012G>T	ENSP00000223642.1:p.Val1338Leu
NM_001735.2:c.4012G>T , LRG_28t1:c.4012G>T	NP_001726.2:p.Val1338Leu
XM_011518980.1:c.4027G>T	XP_011517282.1:p.Val1343Leu
NM_001317163.1:c.4030G>T	NP_001304092.1:p.Val1344Leu
NM_001317163.2:c.4030G>T	NP_001304092.1:p.Val1344Leu
NM_001735.3:c.4012G>T MANE Select	NP_001726.2:p.Val1338Leu