Canonical Allele Identifier: CA344004544

Gene: CFHR5

Linked Data

• MyVariant Identifiers: chr1:g.196964886A>C (hg19) ; chr1:g.196995756A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995756A>C , CM000663.2:g.196995756A>C	GRCh38
NC_000001.10:g.196964886A>C , CM000663.1:g.196964886A>C	GRCh37
NC_000001.9:g.195231509A>C	NCBI36
NG_016365.1:g.23220A>C , LRG_227:g.23220A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.392A>C	ENSP00000514393.1:p.Asn131Thr
ENST00000699467.1:n.716A>C
ENST00000699468.1:c.-24-358A>C	ENSP00000514394.1:n.-24-358A>C
ENST00000256785.5:c.647A>C MANE Select	ENSP00000256785.4:p.Asn216Thr
ENST00000256785.4:c.647A>C	ENSP00000256785.4:p.Asn216Thr
NM_030787.3:c.647A>C , LRG_227t1:c.647A>C	NP_110414.1:p.Asn216Thr
XM_011510020.1:c.656A>C	XP_011508322.1:p.Asn219Thr
XM_011510020.2:c.656A>C	XP_011508322.1:p.Asn219Thr
NM_030787.4:c.647A>C MANE Select	NP_110414.1:p.Asn216Thr