Canonical Allele Identifier: CA3728401

Gene: CFB

Linked Data

• dbSNP Id: rs267600966
• ExAC: 6:31918315 G / A
• gnomAD v2: 6-31918315-G-A
• gnomAD v4: 6-31950538-G-A
• MyVariant Identifiers: chr6:g.31918315G>A (hg19) ; chr6:g.31950538G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950538G>A , CM000668.2:g.31950538G>A	GRCh38
NC_000006.11:g.31918315G>A , CM000668.1:g.31918315G>A	GRCh37
NC_000006.10:g.32026294G>A	NCBI36
NG_008191.1:g.9595G>A , LRG_136:g.9595G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1936G>A
ENST00000483004.2:c.1409-81G>A	ENSP00000419887.2:n.1409-81G>A
ENST00000698628.1:c.1624+135G>A	ENSP00000513848.1:n.1624+135G>A
ENST00000698629.1:n.1802-81G>A
ENST00000698630.1:n.2341-81G>A
ENST00000698631.1:n.2342-81G>A
ENST00000698632.1:n.3055G>A
ENST00000698633.1:n.2945G>A
ENST00000698636.1:n.1847-81G>A
ENST00000425368.7:c.1625-81G>A MANE Select	ENSP00000416561.2:n.1625-81G>A
ENST00000425368.6:c.1625-81G>A	ENSP00000416561.2:n.1625-81G>A
ENST00000452035.6:n.1759G>A
ENST00000456570.5:c.3131-81G>A	ENSP00000410815.1:n.3131-81G>A
ENST00000467360.1:n.670G>A
ENST00000477310.1:c.2678-81G>A	ENSP00000418996.1:n.2678-81G>A
ENST00000483004.1:c.247-81G>A
NM_001710.5:c.1625-81G>A , LRG_136t1:c.1625-81G>A	NP_001701.2:n.1625-81G>A
NM_001710.6:c.1625-81G>A MANE Select	NP_001701.2:n.1625-81G>A