Canonical Allele Identifier: CA422802642

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964866T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995736T>C , CM000663.2:g.196995736T>C	GRCh38
NC_000001.10:g.196964866T>C , CM000663.1:g.196964866T>C	GRCh37
NC_000001.9:g.195231489T>C	NCBI36
NG_016365.1:g.23200T>C , LRG_227:g.23200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.372T>C	ENSP00000514393.1:p.Gly124=
ENST00000699467.1:n.696T>C
ENST00000699468.1:c.-24-378T>C	ENSP00000514394.1:n.-24-378T>C
ENST00000256785.5:c.627T>C MANE Select	ENSP00000256785.4:p.Gly209=
ENST00000256785.4:c.627T>C	ENSP00000256785.4:p.Gly209=
NM_030787.3:c.627T>C , LRG_227t1:c.627T>C	NP_110414.1:p.Gly209=
XM_011510020.1:c.636T>C	XP_011508322.1:p.Gly212=
XM_011510020.2:c.636T>C	XP_011508322.1:p.Gly212=
NM_030787.4:c.627T>C MANE Select	NP_110414.1:p.Gly209=