Canonical Allele Identifier: CA353352077

Gene: FLNB

Linked Data

• gnomAD v4: 3-58136054-G-C
• MyVariant Identifiers: chr3:g.58121781G>C (hg19) ; chr3:g.58136054G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58136054G>C , CM000665.2:g.58136054G>C	GRCh38
NC_000003.11:g.58121781G>C , CM000665.1:g.58121781G>C	GRCh37
NC_000003.10:g.58096821G>C	NCBI36
NG_012801.1:g.132655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682297.1:n.171G>C
ENST00000682868.1:n.6789G>C
ENST00000682871.1:c.4840G>C	ENSP00000507805.1:p.Asp1614His
ENST00000684506.1:c.*3372G>C	ENSP00000507728.1:n.*3372G>C
ENST00000684607.1:c.4840G>C	ENSP00000508224.1:p.Asp1614His
ENST00000295956.9:c.4747G>C MANE Select	ENSP00000295956.5:p.Asp1583His
ENST00000295956.8:c.4747G>C	ENSP00000295956.4:p.Asp1583His
ENST00000358537.7:c.4747G>C	ENSP00000351339.3:p.Asp1583His
ENST00000429972.6:c.4747G>C	ENSP00000415599.2:p.Asp1583His
ENST00000481470.5:n.1087G>C
ENST00000490882.5:c.4840G>C	ENSP00000420213.1:p.Asp1614His
ENST00000493452.5:c.4240G>C	ENSP00000418510.1:p.Asp1414His
NM_001164317.1:c.4840G>C	NP_001157789.1:p.Asp1614His
NM_001164318.1:c.4747G>C	NP_001157790.1:p.Asp1583His
NM_001164319.1:c.4747G>C	NP_001157791.1:p.Asp1583His
NM_001457.3:c.4747G>C	NP_001448.2:p.Asp1583His
XM_005264977.1:c.4840G>C	XP_005265034.1:p.Asp1614His
XM_005264978.1:c.4840G>C	XP_005265035.1:p.Asp1614His
XM_005264981.1:c.4840G>C	XP_005265038.1:p.Asp1614His
XR_940396.1:n.4985G>C
XM_005264978.2:c.4840G>C	XP_005265035.1:p.Asp1614His
XR_001740065.1:n.4985G>C
XR_940396.2:n.4985G>C
NM_001164317.2:c.4840G>C	NP_001157789.1:p.Asp1614His
NM_001164318.2:c.4747G>C	NP_001157790.1:p.Asp1583His
NM_001164319.2:c.4747G>C	NP_001157791.1:p.Asp1583His
NM_001457.4:c.4747G>C MANE Select	NP_001448.2:p.Asp1583His