Canonical Allele Identifier: CA363387523

Gene: CFB

Linked Data

• gnomAD v4: 6-31946268-T-C
• MyVariant Identifiers: chr6:g.31914045T>C (hg19) ; chr6:g.31946268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31946268T>C , CM000668.2:g.31946268T>C	GRCh38
NC_000006.11:g.31914045T>C , CM000668.1:g.31914045T>C	GRCh37
NC_000006.10:g.32022024T>C	NCBI36
NG_008191.1:g.5325T>C , LRG_136:g.5325T>C
NG_011730.1:g.23780T>C , LRG_26:g.23780T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452035.7:n.224T>C
ENST00000483004.2:c.47T>C	ENSP00000419887.2:p.Leu16Ser
ENST00000497841.6:c.47T>C	ENSP00000513847.1:p.Leu16Ser
ENST00000698628.1:c.47T>C	ENSP00000513848.1:p.Leu16Ser
ENST00000698629.1:n.224T>C
ENST00000698630.1:n.208T>C
ENST00000698631.1:n.203T>C
ENST00000698632.1:n.175T>C
ENST00000698633.1:n.145T>C
ENST00000698636.1:n.269T>C
ENST00000425368.7:c.47T>C MANE Select	ENSP00000416561.2:p.Leu16Ser
ENST00000425368.6:c.47T>C	ENSP00000416561.2:p.Leu16Ser
ENST00000452035.6:n.47T>C
ENST00000456570.5:c.1571-105T>C	ENSP00000410815.1:n.1571-105T>C
ENST00000460718.5:c.47T>C	ENSP00000417793.1:p.Leu16Ser
ENST00000472581.1:n.294T>C
ENST00000475617.5:c.47T>C	ENSP00000420090.1:p.Leu16Ser
ENST00000477310.1:c.1352-739T>C	ENSP00000418996.1:n.1352-739T>C
NM_001710.5:c.47T>C , LRG_136t1:c.47T>C	NP_001701.2:p.Leu16Ser
NM_001710.6:c.47T>C MANE Select	NP_001701.2:p.Leu16Ser