Canonical Allele Identifier: CA374741063

Gene: C5

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.121006922C>A , CM000671.2:g.121006922C>A	GRCh38
NC_000009.11:g.123769200C>A , CM000671.1:g.123769200C>A	GRCh37
NC_000009.10:g.122809021C>A	NCBI36
NG_007364.1:g.48355G>T , LRG_28:g.48355G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001735.3:c.2404G>T MANE Select	NP_001726.2:p.Val802Phe
ENST00000223642.3:c.2404G>T MANE Select	ENSP00000223642.1:p.Val802Phe
NM_001317163.1:c.2422G>T	NP_001304092.1:p.Val808Phe
NM_001317163.2:c.2422G>T	NP_001304092.1:p.Val808Phe
NM_001317164.1:c.2404G>T	NP_001304093.1:p.Val802Phe
NM_001317164.2:c.2404G>T	NP_001304093.1:p.Val802Phe
NM_001735.2:c.2404G>T , LRG_28t1:c.2404G>T	NP_001726.2:p.Val802Phe
ENST00000223642.2:c.2404G>T	ENSP00000223642.1:p.Val802Phe
ENST00000466280.1:n.7G>T
ENST00000466280.2:c.1399G>T	ENSP00000513491.1:p.Val467Phe
ENST00000696279.1:c.2724G>T
ENST00000696280.1:n.2493G>T
ENST00000696281.1:c.2422G>T	ENSP00000512521.1:p.Val808Phe
ENST00000697921.1:n.1282G>T
ENST00000697922.1:c.*2394G>T	ENSP00000513478.1:n.*2394G>T
ENST00000697923.1:n.3009G>T
XM_011518980.1:c.2419G>T	XP_011517282.1:p.Val807Phe
XM_011518981.1:c.2422G>T	XP_011517283.1:p.Val808Phe