Canonical Allele Identifier: CA10644110

Gene: CFL2

Linked Data

• ClinVar Variation Id: 313087
• ClinVar RCV Id: RCV000378649
• dbSNP Id: rs749572493
• gnomAD v2: 14-35181076-A-G
• gnomAD v3: 14-34711870-A-G
• gnomAD v4: 14-34711870-A-G
• MyVariant Identifiers: chr14:g.35181076A>G (hg19) ; chr14:g.34711870A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.34711870A>G , CM000676.2:g.34711870A>G	GRCh38
NC_000014.8:g.35181076A>G , CM000676.1:g.35181076A>G	GRCh37
NC_000014.7:g.34250827A>G	NCBI36
NG_012740.1:g.7954T>C , LRG_213:g.7954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298159.11:c.*995T>C MANE Select	ENSP00000298159.6:n.*995T>C
ENST00000341223.8:c.*995T>C	ENSP00000340635.3:n.*995T>C
ENST00000672517.1:c.*995T>C	ENSP00000500532.1:n.*995T>C
ENST00000298159.10:c.*995T>C	ENSP00000298159.6:n.*995T>C
ENST00000341223.7:c.*995T>C	ENSP00000340635.3:n.*995T>C
NM_001243645.1:c.*995T>C	NP_001230574.1:n.*995T>C
NM_021914.7:c.*995T>C	NP_068733.1:n.*995T>C
NM_138638.4:c.*995T>C , LRG_213t1:c.*995T>C	NP_619579.1:n.*995T>C
NR_028130.1:n.1636T>C
NR_028131.1:n.1525T>C
XM_011536363.1:c.*995T>C	XP_011534665.1:n.*995T>C
XM_011536363.3:c.*995T>C	XP_011534665.1:n.*995T>C
NM_138638.5:c.*995T>C MANE Select	NP_619579.1:n.*995T>C
NM_001243645.2:c.*995T>C	NP_001230574.1:n.*995T>C
NM_021914.8:c.*995T>C	NP_068733.1:n.*995T>C
NR_028130.2:n.1406T>C
NR_028131.2:n.1295T>C