Canonical Allele Identifier: CA2468009

Gene: FLNB

Linked Data

• dbSNP Id: rs747442945
• ExAC: 3:58094330 T / C
• gnomAD v2: 3-58094330-T-C
• gnomAD v4: 3-58108603-T-C
• MyVariant Identifiers: chr3:g.58094330T>C (hg19) ; chr3:g.58108603T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58108603T>C , CM000665.2:g.58108603T>C	GRCh38
NC_000003.11:g.58094330T>C , CM000665.1:g.58094330T>C	GRCh37
NC_000003.10:g.58069370T>C	NCBI36
NG_012801.1:g.105204T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682868.1:n.2198+32T>C
ENST00000682871.1:c.2055+32T>C	ENSP00000507805.1:n.2055+32T>C
ENST00000684107.1:c.*587+32T>C	ENSP00000507440.1:n.*587+32T>C
ENST00000684506.1:c.*587+32T>C	ENSP00000507728.1:n.*587+32T>C
ENST00000684517.1:c.*587+32T>C	ENSP00000507828.1:n.*587+32T>C
ENST00000684607.1:c.2055+32T>C	ENSP00000508224.1:n.2055+32T>C
ENST00000295956.9:c.2055+32T>C MANE Select	ENSP00000295956.5:n.2055+32T>C
ENST00000295956.8:c.2055+32T>C	ENSP00000295956.4:n.2055+32T>C
ENST00000358537.7:c.2055+32T>C	ENSP00000351339.3:n.2055+32T>C
ENST00000429972.6:c.2055+32T>C	ENSP00000415599.2:n.2055+32T>C
ENST00000490882.5:c.2055+32T>C	ENSP00000420213.1:n.2055+32T>C
ENST00000493452.5:c.1548+32T>C	ENSP00000418510.1:n.1548+32T>C
NM_001164317.1:c.2055+32T>C	NP_001157789.1:n.2055+32T>C
NM_001164318.1:c.2055+32T>C	NP_001157790.1:n.2055+32T>C
NM_001164319.1:c.2055+32T>C	NP_001157791.1:n.2055+32T>C
NM_001457.3:c.2055+32T>C	NP_001448.2:n.2055+32T>C
XM_005264977.1:c.2055+32T>C	XP_005265034.1:n.2055+32T>C
XM_005264978.1:c.2055+32T>C	XP_005265035.1:n.2055+32T>C
XM_005264981.1:c.2055+32T>C	XP_005265038.1:n.2055+32T>C
XR_940396.1:n.2200+32T>C
XM_005264978.2:c.2055+32T>C	XP_005265035.1:n.2055+32T>C
XR_001740065.1:n.2200+32T>C
XR_940396.2:n.2200+32T>C
NM_001164317.2:c.2055+32T>C	NP_001157789.1:n.2055+32T>C
NM_001164318.2:c.2055+32T>C	NP_001157790.1:n.2055+32T>C
NM_001164319.2:c.2055+32T>C	NP_001157791.1:n.2055+32T>C
NM_001457.4:c.2055+32T>C MANE Select	NP_001448.2:n.2055+32T>C