Canonical Allele Identifier: CA566692848

Gene: CFB

Linked Data

• ClinVar Variation Id: 3008748
• ClinVar RCV Id: RCV003861875
• dbSNP Id: rs1385123354
• gnomAD v2: 6-31914401-G-C
• gnomAD v3: 6-31946624-G-C
• gnomAD v4: 6-31946624-G-C
• MyVariant Identifiers: chr6:g.31914401G>C (hg19) ; chr6:g.31946624G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946624G>C , CM000668.2:g.31946624G>C	GRCh38
NC_000006.11:g.31914401G>C , CM000668.1:g.31914401G>C	GRCh37
NC_000006.10:g.32022380G>C	NCBI36
NG_008191.1:g.5681G>C , LRG_136:g.5681G>C
NG_011730.1:g.24136G>C , LRG_26:g.24136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.475+18G>C
ENST00000483004.2:c.298+18G>C	ENSP00000419887.2:n.298+18G>C
ENST00000497841.6:c.298+18G>C	ENSP00000513847.1:n.298+18G>C
ENST00000698628.1:c.298+18G>C	ENSP00000513848.1:n.298+18G>C
ENST00000698629.1:n.475+18G>C
ENST00000698630.1:n.477G>C
ENST00000698631.1:n.472G>C
ENST00000698632.1:n.444G>C
ENST00000698633.1:n.414G>C
ENST00000698636.1:n.520+18G>C
ENST00000425368.7:c.298+18G>C MANE Select	ENSP00000416561.2:n.298+18G>C
ENST00000425368.6:c.298+18G>C	ENSP00000416561.2:n.298+18G>C
ENST00000452035.6:n.298+18G>C
ENST00000456570.5:c.1804+18G>C	ENSP00000410815.1:n.1804+18G>C
ENST00000460718.5:c.185+18G>C	ENSP00000417793.1:n.185+18G>C
ENST00000472581.1:n.563G>C
ENST00000475617.5:c.298+18G>C	ENSP00000420090.1:n.298+18G>C
ENST00000477310.1:c.1352-383G>C	ENSP00000418996.1:n.1352-383G>C
NM_001710.5:c.298+18G>C , LRG_136t1:c.298+18G>C	NP_001701.2:n.298+18G>C
NM_001710.6:c.298+18G>C MANE Select	NP_001701.2:n.298+18G>C