Allele Registry

Canonical Allele Identifier: CA15422877

Gene: CFB HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr6:g.31949174T>C

GRCh37 chr6:g.31916951T>C

Linked Data - Sequence & Population

gnomAD v2:

6:31916951 T / C

gnomAD v3:

6:31949174 T / C

gnomAD v4:

chr6-31949174-T-C

Joint Max Group AF 0.18887822 (AFR)

Genomes Max Group AF 0.18961668 (AFR)

Exomes Max Group AF 0.18542141 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001698594

ClinVar Variation:

1283922

dbSNP:

541862

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31949174T>C , CM000668.2:g.31949174T>C	GRCh38
NC_000006.11:g.31916951T>C , CM000668.1:g.31916951T>C	GRCh37
NC_000006.10:g.32024930T>C	NCBI36
NG_008191.1:g.8231T>C , LRG_136:g.8231T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.1346-69T>C
ENST00000483004.2:c.1169-69T>C	ENSP00000419887.2:n.1169-69T>C
ENST00000497841.6:c.1169-69T>C	ENSP00000513847.1:n.1169-69T>C
ENST00000698628.1:c.1169-69T>C	ENSP00000513848.1:n.1169-69T>C
ENST00000698629.1:n.1346-69T>C
ENST00000698630.1:n.1885-69T>C
ENST00000698631.1:n.1886-69T>C
ENST00000698632.1:n.2465-69T>C
ENST00000698633.1:n.2280-69T>C
ENST00000698636.1:n.1391-69T>C
ENST00000425368.7:c.1169-69T>C MANE Select	ENSP00000416561.2:n.1169-69T>C
ENST00000425368.6:c.1169-69T>C	ENSP00000416561.2:n.1169-69T>C
ENST00000452035.6:n.1169-69T>C
ENST00000456570.5:c.2675-69T>C	ENSP00000410815.1:n.2675-69T>C
ENST00000461483.5:n.1044-69T>C
ENST00000465750.5:n.288-69T>C
ENST00000467150.1:n.177T>C
ENST00000477310.1:c.2222-69T>C	ENSP00000418996.1:n.2222-69T>C
ENST00000482886.1:n.398T>C
ENST00000483004.1:c.7-69T>C
ENST00000497841.5:n.456-69T>C
NM_001710.5:c.1169-69T>C , LRG_136t1:c.1169-69T>C	NP_001701.2:n.1169-69T>C
NM_001710.6:c.1169-69T>C MANE Select	NP_001701.2:n.1169-69T>C

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