Canonical Allele Identifier: CA1307894

Gene: CFHR5

Linked Data

• dbSNP Id: rs753861647
• ExAC: 1:196965206 C / T
• gnomAD v2: 1-196965206-C-T
• gnomAD v3: 1-196996076-C-T
• gnomAD v4: 1-196996076-C-T
• MyVariant Identifiers: chr1:g.196965206C>T (hg19) ; chr1:g.196996076C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996076C>T , CM000663.2:g.196996076C>T	GRCh38
NC_000001.10:g.196965206C>T , CM000663.1:g.196965206C>T	GRCh37
NC_000001.9:g.195231829C>T	NCBI36
NG_016365.1:g.23540C>T , LRG_227:g.23540C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.590C>T	ENSP00000514393.1:p.Pro197Leu
ENST00000699467.1:n.914C>T
ENST00000699468.1:c.-24-38C>T	ENSP00000514394.1:n.-24-38C>T
ENST00000256785.5:c.845C>T MANE Select	ENSP00000256785.4:p.Pro282Leu
ENST00000256785.4:c.845C>T	ENSP00000256785.4:p.Pro282Leu
NM_030787.3:c.845C>T , LRG_227t1:c.845C>T	NP_110414.1:p.Pro282Leu
XM_011510020.1:c.854C>T	XP_011508322.1:p.Pro285Leu
XM_011510020.2:c.854C>T	XP_011508322.1:p.Pro285Leu
NM_030787.4:c.845C>T MANE Select	NP_110414.1:p.Pro282Leu