Canonical Allele Identifier: CA566364662

Gene: CFB

Linked Data

• dbSNP Id: rs1348542908
• gnomAD v2: 6-31913945-G-A
• gnomAD v3: 6-31946168-G-A
• gnomAD v4: 6-31946168-G-A
• MyVariant Identifiers: chr6:g.31913945G>A (hg19) ; chr6:g.31946168G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946168G>A , CM000668.2:g.31946168G>A	GRCh38
NC_000006.11:g.31913945G>A , CM000668.1:g.31913945G>A	GRCh37
NC_000006.10:g.32021924G>A	NCBI36
NG_008191.1:g.5225G>A , LRG_136:g.5225G>A
NG_011730.1:g.23680G>A , LRG_26:g.23680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.124G>A
ENST00000483004.2:c.-54G>A	ENSP00000419887.2:n.-54G>A
ENST00000497841.6:c.-54G>A	ENSP00000513847.1:n.-54G>A
ENST00000698628.1:c.-54G>A	ENSP00000513848.1:n.-54G>A
ENST00000698629.1:n.124G>A
ENST00000698630.1:n.108G>A
ENST00000698631.1:n.103G>A
ENST00000698632.1:n.75G>A
ENST00000698633.1:n.45G>A
ENST00000698636.1:n.169G>A
ENST00000425368.7:c.-54G>A MANE Select	ENSP00000416561.2:n.-54G>A
ENST00000425368.6:c.-54G>A	ENSP00000416561.2:n.-54G>A
ENST00000456570.5:c.1571-205G>A	ENSP00000410815.1:n.1571-205G>A
ENST00000460718.5:c.-54G>A	ENSP00000417793.1:n.-54G>A
ENST00000472581.1:n.194G>A
ENST00000475617.5:c.-54G>A	ENSP00000420090.1:n.-54G>A
ENST00000477310.1:c.1352-839G>A	ENSP00000418996.1:n.1352-839G>A
NM_001710.5:c.-54G>A , LRG_136t1:c.-54G>A	NP_001701.2:n.-54G>A
NM_001710.6:c.-54G>A MANE Select	NP_001701.2:n.-54G>A