Canonical Allele Identifier: CA136897320

Gene: CFB

Linked Data

• ClinVar Variation Id: 1911227
• ClinVar RCV Id: RCV002578527
• dbSNP Id: rs745916220
• gnomAD v2: 6-31918198-G-A
• gnomAD v4: 6-31950421-G-A
• MyVariant Identifiers: chr6:g.31918198G>A (hg19) ; chr6:g.31950421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31950421G>A , CM000668.2:g.31950421G>A	GRCh38
NC_000006.11:g.31918198G>A , CM000668.1:g.31918198G>A	GRCh37
NC_000006.10:g.32026177G>A	NCBI36
NG_008191.1:g.9478G>A , LRG_136:g.9478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.1819G>A
ENST00000483004.2:c.1409-198G>A	ENSP00000419887.2:n.1409-198G>A
ENST00000698628.1:c.1624+18G>A	ENSP00000513848.1:n.1624+18G>A
ENST00000698629.1:n.1801+18G>A
ENST00000698630.1:n.2340+18G>A
ENST00000698631.1:n.2341+18G>A
ENST00000698632.1:n.2938G>A
ENST00000698633.1:n.2828G>A
ENST00000698636.1:n.1846+18G>A
ENST00000425368.7:c.1624+18G>A MANE Select	ENSP00000416561.2:n.1624+18G>A
ENST00000425368.6:c.1624+18G>A	ENSP00000416561.2:n.1624+18G>A
ENST00000452035.6:n.1642G>A
ENST00000456570.5:c.3130+18G>A	ENSP00000410815.1:n.3130+18G>A
ENST00000467360.1:n.553G>A
ENST00000477310.1:c.2677+18G>A	ENSP00000418996.1:n.2677+18G>A
ENST00000483004.1:c.247-198G>A
NM_001710.5:c.1624+18G>A , LRG_136t1:c.1624+18G>A	NP_001701.2:n.1624+18G>A
NM_001710.6:c.1624+18G>A MANE Select	NP_001701.2:n.1624+18G>A