Canonical Allele Identifier: CA389420810

Gene: CFL2

Linked Data

• ClinVar Variation Id: 1713798
• ClinVar RCV Id: RCV002295583
• gnomAD v4: 14-34712869-A-G
• MyVariant Identifiers: chr14:g.35182075A>G (hg19) ; chr14:g.34712869A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34712869A>G , CM000676.2:g.34712869A>G	GRCh38
NC_000014.8:g.35182075A>G , CM000676.1:g.35182075A>G	GRCh37
NC_000014.7:g.34251826A>G	NCBI36
NG_012740.1:g.6955T>C , LRG_213:g.6955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.497T>C MANE Select	ENSP00000298159.6:p.Leu166Ser
ENST00000341223.8:c.497T>C	ENSP00000340635.3:p.Leu166Ser
ENST00000672163.1:c.497T>C	ENSP00000500375.1:p.Leu166Ser
ENST00000672517.1:c.497T>C	ENSP00000500532.1:p.Leu166Ser
ENST00000673315.1:c.446T>C	ENSP00000500002.1:p.Leu149Ser
ENST00000298159.10:c.497T>C	ENSP00000298159.6:p.Leu166Ser
ENST00000341223.7:c.497T>C	ENSP00000340635.3:p.Leu166Ser
ENST00000422678.2:c.*177T>C	ENSP00000409326.2:n.*177T>C
ENST00000554470.5:c.*177T>C	ENSP00000450862.1:n.*177T>C
ENST00000555765.5:c.446T>C	ENSP00000452451.1:p.Leu149Ser
ENST00000556161.1:c.446T>C	ENSP00000452188.1:p.Leu149Ser
NM_001243645.1:c.446T>C	NP_001230574.1:p.Leu149Ser
NM_021914.7:c.497T>C	NP_068733.1:p.Leu166Ser
NM_138638.4:c.497T>C , LRG_213t1:c.497T>C	NP_619579.1:p.Leu166Ser
NR_028130.1:n.637T>C
NR_028131.1:n.526T>C
XM_011536363.1:c.446T>C	XP_011534665.1:p.Leu149Ser
XM_011536363.3:c.446T>C	XP_011534665.1:p.Leu149Ser
NM_138638.5:c.497T>C MANE Select	NP_619579.1:p.Leu166Ser
NM_001243645.2:c.446T>C	NP_001230574.1:p.Leu149Ser
NM_021914.8:c.497T>C	NP_068733.1:p.Leu166Ser
NR_028130.2:n.407T>C
NR_028131.2:n.296T>C