Canonical Allele Identifier: CA1307804

Gene: CFHR5

Linked Data

• dbSNP Id: rs759283203
• ExAC: 1:196964803 C / T
• gnomAD v2: 1-196964803-C-T
• MyVariant Identifiers: chr1:g.196964803C>T (hg19) ; chr1:g.196995673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995673C>T , CM000663.2:g.196995673C>T	GRCh38
NC_000001.10:g.196964803C>T , CM000663.1:g.196964803C>T	GRCh37
NC_000001.9:g.195231426C>T	NCBI36
NG_016365.1:g.23137C>T , LRG_227:g.23137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-44C>T	ENSP00000514393.1:n.353-44C>T
ENST00000699467.1:n.677-44C>T
ENST00000699468.1:c.-24-441C>T	ENSP00000514394.1:n.-24-441C>T
ENST00000256785.5:c.608-44C>T MANE Select	ENSP00000256785.4:n.608-44C>T
ENST00000256785.4:c.608-44C>T	ENSP00000256785.4:n.608-44C>T
NM_030787.3:c.608-44C>T , LRG_227t1:c.608-44C>T	NP_110414.1:n.608-44C>T
XM_011510020.1:c.617-44C>T	XP_011508322.1:n.617-44C>T
XM_011510020.2:c.617-44C>T	XP_011508322.1:n.617-44C>T
NM_030787.4:c.608-44C>T MANE Select	NP_110414.1:n.608-44C>T