Canonical Allele Identifier: CA374725418

Gene: C5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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