Canonical Allele Identifier: CA374741065

Gene: C5

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001735.3:c.2404G>C MANE Select	NP_001726.2:p.Val802Leu
ENST00000223642.3:c.2404G>C MANE Select	ENSP00000223642.1:p.Val802Leu
NM_001317163.1:c.2422G>C	NP_001304092.1:p.Val808Leu
NM_001317163.2:c.2422G>C	NP_001304092.1:p.Val808Leu
NM_001317164.1:c.2404G>C	NP_001304093.1:p.Val802Leu
NM_001317164.2:c.2404G>C	NP_001304093.1:p.Val802Leu
NM_001735.2:c.2404G>C , LRG_28t1:c.2404G>C	NP_001726.2:p.Val802Leu
ENST00000223642.2:c.2404G>C	ENSP00000223642.1:p.Val802Leu
ENST00000466280.1:n.7G>C
ENST00000466280.2:c.1399G>C	ENSP00000513491.1:p.Val467Leu
ENST00000696279.1:c.2724G>C
ENST00000696280.1:n.2493G>C
ENST00000696281.1:c.2422G>C	ENSP00000512521.1:p.Val808Leu
ENST00000697921.1:n.1282G>C
ENST00000697922.1:c.*2394G>C	ENSP00000513478.1:n.*2394G>C
ENST00000697923.1:n.3009G>C
XM_011518980.1:c.2419G>C	XP_011517282.1:p.Val807Leu
XM_011518981.1:c.2422G>C	XP_011517283.1:p.Val808Leu