Canonical Allele Identifier: CA35878056

Gene: CFHR5

Linked Data

• dbSNP Id: rs202052182
• gnomAD v2: 1-196964714-C-CA
• gnomAD v3: 1-196995584-C-CA
• gnomAD v4: 1-196995584-C-CA
• MyVariant Identifiers: chr1:g.196964714_196964715insA (hg19) ; chr1:g.196995584_196995585insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995590dup , CM000663.2:g.196995590dup	GRCh38
NC_000001.10:g.196964720dup , CM000663.1:g.196964720dup	GRCh37
NC_000001.9:g.195231343dup	NCBI36
NG_016365.1:g.23054dup , LRG_227:g.23054dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-127dup	ENSP00000514393.1:n.353-127dup
ENST00000699467.1:n.677-127dup
ENST00000699468.1:c.-24-524dup	ENSP00000514394.1:n.-24-524dup
ENST00000256785.5:c.608-127dup MANE Select	ENSP00000256785.4:n.608-127dup
ENST00000256785.4:c.608-127dup	ENSP00000256785.4:n.608-127dup
NM_030787.3:c.608-127dup , LRG_227t1:c.608-127dup	NP_110414.1:n.608-127dup
XM_011510020.1:c.617-127dup	XP_011508322.1:n.617-127dup
XM_011510020.2:c.617-127dup	XP_011508322.1:n.617-127dup
NM_030787.4:c.608-127dup MANE Select	NP_110414.1:n.608-127dup