Canonical Allele Identifier: CA199349607

Gene: C5

Linked Data

• dbSNP Id: rs1002666654
• MyVariant Identifiers: chr9:g.123742694G>A (hg19) ; chr9:g.120980416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120980416G>A , CM000671.2:g.120980416G>A	GRCh38
NC_000009.11:g.123742694G>A , CM000671.1:g.123742694G>A	GRCh37
NC_000009.10:g.122782515G>A	NCBI36
NG_007364.1:g.74861C>T , LRG_28:g.74861C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480188.2:n.398-162C>T
ENST00000696279.1:c.3807-162C>T
ENST00000696280.1:n.3576-162C>T
ENST00000696281.1:c.3505-162C>T	ENSP00000512521.1:n.3505-162C>T
ENST00000697921.1:n.2365-162C>T
ENST00000697922.1:c.*3477-162C>T	ENSP00000513478.1:n.*3477-162C>T
ENST00000697923.1:n.3932-162C>T
ENST00000223642.3:c.3487-162C>T MANE Select	ENSP00000223642.1:n.3487-162C>T
ENST00000223642.2:c.3487-162C>T	ENSP00000223642.1:n.3487-162C>T
ENST00000489802.1:n.50-162C>T
NM_001735.2:c.3487-162C>T , LRG_28t1:c.3487-162C>T	NP_001726.2:n.3487-162C>T
XM_011518980.1:c.3502-162C>T	XP_011517282.1:n.3502-162C>T
NM_001317163.1:c.3505-162C>T	NP_001304092.1:n.3505-162C>T
NM_001317163.2:c.3505-162C>T	NP_001304092.1:n.3505-162C>T
NM_001735.3:c.3487-162C>T MANE Select	NP_001726.2:n.3487-162C>T