Canonical Allele Identifier: CA363409501

Gene: CFB

Linked Data

• gnomAD v4: 6-31950774-T-G
• MyVariant Identifiers: chr6:g.31918551T>G (hg19) ; chr6:g.31950774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950774T>G , CM000668.2:g.31950774T>G	GRCh38
NC_000006.11:g.31918551T>G , CM000668.1:g.31918551T>G	GRCh37
NC_000006.10:g.32026530T>G	NCBI36
NG_008191.1:g.9831T>G , LRG_136:g.9831T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.2172T>G
ENST00000483004.2:c.1562+2T>G	ENSP00000419887.2:n.1562+2T>G
ENST00000698628.1:c.1625-370T>G	ENSP00000513848.1:n.1625-370T>G
ENST00000698629.1:n.1957T>G
ENST00000698630.1:n.2494+2T>G
ENST00000698631.1:n.2495+2T>G
ENST00000698632.1:n.3291T>G
ENST00000698633.1:n.3181T>G
ENST00000698636.1:n.2002T>G
ENST00000425368.7:c.1778+2T>G MANE Select	ENSP00000416561.2:n.1778+2T>G
ENST00000425368.6:c.1778+2T>G	ENSP00000416561.2:n.1778+2T>G
ENST00000456570.5:c.3284+2T>G	ENSP00000410815.1:n.3284+2T>G
ENST00000467360.1:n.904+2T>G
ENST00000477310.1:c.2831+2T>G	ENSP00000418996.1:n.2831+2T>G
ENST00000483004.1:c.400+2T>G
NM_001710.5:c.1778+2T>G , LRG_136t1:c.1778+2T>G	NP_001701.2:n.1778+2T>G
NM_001710.6:c.1778+2T>G MANE Select	NP_001701.2:n.1778+2T>G