Canonical Allele Identifier: CA344004553

Gene: CFHR5

Linked Data

• dbSNP Id: rs762454161
• MyVariant Identifiers: chr1:g.196964887T>G (hg19) ; chr1:g.196995757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995757T>G , CM000663.2:g.196995757T>G	GRCh38
NC_000001.10:g.196964887T>G , CM000663.1:g.196964887T>G	GRCh37
NC_000001.9:g.195231510T>G	NCBI36
NG_016365.1:g.23221T>G , LRG_227:g.23221T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.393T>G	ENSP00000514393.1:p.Asn131Lys
ENST00000699467.1:n.717T>G
ENST00000699468.1:c.-24-357T>G	ENSP00000514394.1:n.-24-357T>G
ENST00000256785.5:c.648T>G MANE Select	ENSP00000256785.4:p.Asn216Lys
ENST00000256785.4:c.648T>G	ENSP00000256785.4:p.Asn216Lys
NM_030787.3:c.648T>G , LRG_227t1:c.648T>G	NP_110414.1:p.Asn216Lys
XM_011510020.1:c.657T>G	XP_011508322.1:p.Asn219Lys
XM_011510020.2:c.657T>G	XP_011508322.1:p.Asn219Lys
NM_030787.4:c.648T>G MANE Select	NP_110414.1:p.Asn216Lys