Canonical Allele Identifier: CA344004930

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964957A>C (hg19) ; chr1:g.196995827A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995827A>C , CM000663.2:g.196995827A>C	GRCh38
NC_000001.10:g.196964957A>C , CM000663.1:g.196964957A>C	GRCh37
NC_000001.9:g.195231580A>C	NCBI36
NG_016365.1:g.23291A>C , LRG_227:g.23291A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.463A>C	ENSP00000514393.1:p.Asn155His
ENST00000699467.1:n.787A>C
ENST00000699468.1:c.-24-287A>C	ENSP00000514394.1:n.-24-287A>C
ENST00000256785.5:c.718A>C MANE Select	ENSP00000256785.4:p.Asn240His
ENST00000256785.4:c.718A>C	ENSP00000256785.4:p.Asn240His
NM_030787.3:c.718A>C , LRG_227t1:c.718A>C	NP_110414.1:p.Asn240His
XM_011510020.1:c.727A>C	XP_011508322.1:p.Asn243His
XM_011510020.2:c.727A>C	XP_011508322.1:p.Asn243His
NM_030787.4:c.718A>C MANE Select	NP_110414.1:p.Asn240His