Canonical Allele Identifier: CA2649656645

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995949-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995949T>C , CM000663.2:g.196995949T>C	GRCh38
NC_000001.10:g.196965079T>C , CM000663.1:g.196965079T>C	GRCh37
NC_000001.9:g.195231702T>C	NCBI36
NG_016365.1:g.23413T>C , LRG_227:g.23413T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.535+50T>C	ENSP00000514393.1:n.535+50T>C
ENST00000699467.1:n.859+50T>C
ENST00000699468.1:c.-24-165T>C	ENSP00000514394.1:n.-24-165T>C
ENST00000256785.5:c.790+50T>C MANE Select	ENSP00000256785.4:n.790+50T>C
ENST00000256785.4:c.790+50T>C	ENSP00000256785.4:n.790+50T>C
NM_030787.3:c.790+50T>C , LRG_227t1:c.790+50T>C	NP_110414.1:n.790+50T>C
XM_011510020.1:c.799+50T>C	XP_011508322.1:n.799+50T>C
XM_011510020.2:c.799+50T>C	XP_011508322.1:n.799+50T>C
NM_030787.4:c.790+50T>C MANE Select	NP_110414.1:n.790+50T>C