Canonical Allele Identifier: CA148897

Gene: FLVCR2 FLVCR2-AS1

Linked Data

• ClinVar Variation Id: 95817
• ClinVar RCV Id: RCV000081863 ; RCV000377875 ; RCV001650926
• dbSNP Id: rs8011292
• ExAC: 14:76045691 C / T
• gnomAD v2: 14-76045691-C-T
• gnomAD v3: 14-75579348-C-T
• gnomAD v4: 14-75579348-C-T
• MyVariant Identifiers: chr14:g.76045691C>T (hg19) ; chr14:g.75579348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.75579348C>T , CM000676.2:g.75579348C>T	GRCh38
NC_000014.8:g.76045691C>T , CM000676.1:g.76045691C>T	GRCh37
NC_000014.7:g.75115444C>T	NCBI36
NG_027694.1:g.5752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238667.9:c.376C>T (FLVCR2) MANE Select	ENSP00000238667.4:p.Leu126=
ENST00000238667.8:c.376C>T (FLVCR2)	ENSP00000238667.4:p.Leu126=
NM_017791.2:c.376C>T (FLVCR2)	NP_060261.2:p.Leu126=
NR_110552.1:n.241G>A (FLVCR2-AS1)
NM_017791.3:c.376C>T (FLVCR2) MANE Select	NP_060261.2:p.Leu126=