Canonical Allele Identifier: CA6424018

Gene: C1R

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7081258G>T , CM000674.2:g.7081258G>T	GRCh38
NC_000012.11:g.7188562G>T , CM000674.1:g.7188562G>T	GRCh37
NC_000012.10:g.7058817G>T	NCBI36
NG_062465.1:g.15581C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001733.7:c.1392C>A MANE Select	NP_001724.4:p.Ile464=
ENST00000647956.2:c.1392C>A MANE Select	ENSP00000497341.1:p.Ile464=
NM_001354346.1:c.1434C>A	NP_001341275.1:p.Ile478=
NM_001354346.2:c.1434C>A	NP_001341275.1:p.Ile478=
NM_001733.6:c.1392C>A	NP_001724.4:p.Ile464=
ENST00000535233.6:c.1290C>A	ENSP00000438636.3:p.Ile430=
ENST00000536053.6:c.1434C>A	ENSP00000444271.3:p.Ile478=
ENST00000540394.5:n.2457C>A
ENST00000542285.5:c.1392C>A	ENSP00000438615.2:p.Ile464=
ENST00000602298.2:n.1741C>A
ENST00000648162.1:n.1364C>A
ENST00000649804.1:c.330C>A	ENSP00000497938.1:p.Ile110=