Canonical Allele Identifier: CA3728572

Gene: CFB

Linked Data

• dbSNP Id: rs762631673
• ExAC: 6:31919502 C / T
• gnomAD v2: 6-31919502-C-T
• gnomAD v4: 6-31951725-C-T
• MyVariant Identifiers: chr6:g.31919502C>T (hg19) ; chr6:g.31951725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31951725C>T , CM000668.2:g.31951725C>T	GRCh38
NC_000006.11:g.31919502C>T , CM000668.1:g.31919502C>T	GRCh37
NC_000006.10:g.32027481C>T	NCBI36
NG_008191.1:g.10782C>T , LRG_136:g.10782C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000452035.7:n.2573+121C>T
ENST00000483004.2:c.1923+121C>T	ENSP00000419887.2:n.1923+121C>T
ENST00000698628.1:c.1908+121C>T	ENSP00000513848.1:n.1908+121C>T
ENST00000698629.1:n.2358+121C>T
ENST00000698630.1:n.2855+121C>T
ENST00000698631.1:n.2856+121C>T
ENST00000698632.1:n.3944+121C>T
ENST00000698633.1:n.3834+121C>T
ENST00000425368.7:c.2139+121C>T MANE Select	ENSP00000416561.2:n.2139+121C>T
ENST00000425368.6:c.2139+121C>T	ENSP00000416561.2:n.2139+121C>T
ENST00000456570.5:c.3645+121C>T	ENSP00000410815.1:n.3645+121C>T
ENST00000477310.1:c.3192+121C>T	ENSP00000418996.1:n.3192+121C>T
ENST00000482312.1:n.554+121C>T
ENST00000483004.1:c.761+121C>T
ENST00000498317.1:c.230C>T
NM_001710.5:c.2139+121C>T , LRG_136t1:c.2139+121C>T	NP_001701.2:n.2139+121C>T
NM_001710.6:c.2139+121C>T MANE Select	NP_001701.2:n.2139+121C>T