Canonical Allele Identifier: CA389420870

Gene: CFL2

Linked Data

• ClinVar Variation Id: 1713911
• ClinVar RCV Id: RCV002296894
• gnomAD v4: 14-34712897-C-T
• MyVariant Identifiers: chr14:g.35182103C>T (hg19) ; chr14:g.34712897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34712897C>T , CM000676.2:g.34712897C>T	GRCh38
NC_000014.8:g.35182103C>T , CM000676.1:g.35182103C>T	GRCh37
NC_000014.7:g.34251854C>T	NCBI36
NG_012740.1:g.6927G>A , LRG_213:g.6927G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.469G>A MANE Select	ENSP00000298159.6:p.Val157Ile
ENST00000341223.8:c.469G>A	ENSP00000340635.3:p.Val157Ile
ENST00000672163.1:c.469G>A	ENSP00000500375.1:p.Val157Ile
ENST00000672517.1:c.469G>A	ENSP00000500532.1:p.Val157Ile
ENST00000673315.1:c.418G>A	ENSP00000500002.1:p.Val140Ile
ENST00000298159.10:c.469G>A	ENSP00000298159.6:p.Val157Ile
ENST00000341223.7:c.469G>A	ENSP00000340635.3:p.Val157Ile
ENST00000422678.2:c.*149G>A	ENSP00000409326.2:n.*149G>A
ENST00000554470.5:c.*149G>A	ENSP00000450862.1:n.*149G>A
ENST00000555765.5:c.418G>A	ENSP00000452451.1:p.Val140Ile
ENST00000556161.1:c.418G>A	ENSP00000452188.1:p.Val140Ile
NM_001243645.1:c.418G>A	NP_001230574.1:p.Val140Ile
NM_021914.7:c.469G>A	NP_068733.1:p.Val157Ile
NM_138638.4:c.469G>A , LRG_213t1:c.469G>A	NP_619579.1:p.Val157Ile
NR_028130.1:n.609G>A
NR_028131.1:n.498G>A
XM_011536363.1:c.418G>A	XP_011534665.1:p.Val140Ile
XM_011536363.3:c.418G>A	XP_011534665.1:p.Val140Ile
NM_138638.5:c.469G>A MANE Select	NP_619579.1:p.Val157Ile
NM_001243645.2:c.418G>A	NP_001230574.1:p.Val140Ile
NM_021914.8:c.469G>A	NP_068733.1:p.Val157Ile
NR_028130.2:n.379G>A
NR_028131.2:n.268G>A