Canonical Allele Identifier: CA2649656651

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995965-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995965T>C , CM000663.2:g.196995965T>C	GRCh38
NC_000001.10:g.196965095T>C , CM000663.1:g.196965095T>C	GRCh37
NC_000001.9:g.195231718T>C	NCBI36
NG_016365.1:g.23429T>C , LRG_227:g.23429T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.536-57T>C	ENSP00000514393.1:n.536-57T>C
ENST00000699467.1:n.860-57T>C
ENST00000699468.1:c.-24-149T>C	ENSP00000514394.1:n.-24-149T>C
ENST00000256785.5:c.791-57T>C MANE Select	ENSP00000256785.4:n.791-57T>C
ENST00000256785.4:c.791-57T>C	ENSP00000256785.4:n.791-57T>C
NM_030787.3:c.791-57T>C , LRG_227t1:c.791-57T>C	NP_110414.1:n.791-57T>C
XM_011510020.1:c.800-57T>C	XP_011508322.1:n.800-57T>C
XM_011510020.2:c.800-57T>C	XP_011508322.1:n.800-57T>C
NM_030787.4:c.791-57T>C MANE Select	NP_110414.1:n.791-57T>C