Canonical Allele Identifier: CA2666273424
Community Standard Title: NM_001457.4(FLNB):c.*1180T>C
Gene: FLNB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58171942T>C , CM000665.2:g.58171942T>C GRCh38
NC_000003.11:g.58157669T>C , CM000665.1:g.58157669T>C GRCh37
NC_000003.10:g.58132709T>C NCBI36
NG_012801.1:g.168543T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001457.4:c.*1180T>C MANE Select NP_001448.2:n.*1180T>C
ENST00000295956.9:c.*1180T>C MANE Select ENSP00000295956.5:n.*1180T>C
NM_001164317.1:c.*1180T>C NP_001157789.1:n.*1180T>C
NM_001164317.2:c.*1180T>C NP_001157789.1:n.*1180T>C
NM_001164318.1:c.*1180T>C NP_001157790.1:n.*1180T>C
NM_001164318.2:c.*1180T>C NP_001157790.1:n.*1180T>C
NM_001164319.1:c.*1180T>C NP_001157791.1:n.*1180T>C
NM_001164319.2:c.*1180T>C NP_001157791.1:n.*1180T>C
NM_001457.3:c.*1180T>C NP_001448.2:n.*1180T>C
ENST00000295956.8:c.*1180T>C ENSP00000295956.4:n.*1180T>C
ENST00000358537.7:c.*1180T>C ENSP00000351339.3:n.*1180T>C
ENST00000419752.3:c.*1080T>C ENSP00000414532.3:n.*1080T>C
ENST00000419752.4:n.5658T>C
ENST00000429972.6:c.*1180T>C ENSP00000415599.2:n.*1180T>C
ENST00000481470.5:n.6188T>C
ENST00000682297.1:n.4341T>C
ENST00000682503.1:n.3189T>C
ENST00000682871.1:c.*1180T>C ENSP00000507805.1:n.*1180T>C
ENST00000683114.1:n.3660T>C
ENST00000684439.1:n.5300T>C
ENST00000684506.1:c.*7542T>C ENSP00000507728.1:n.*7542T>C
ENST00000684607.1:c.*2081T>C ENSP00000508224.1:n.*2081T>C
XM_005264977.1:c.*1180T>C XP_005265034.1:n.*1180T>C
XM_005264978.1:c.*1180T>C XP_005265035.1:n.*1180T>C
XM_011534354.1:c.97+69T>C XP_011532656.1:n.97+69T>C
XR_001740065.1:n.9297T>C