Canonical Allele Identifier: CA1386005

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 295319
• ClinVar RCV Id: RCV000266137 ; RCV000516759 ; RCV001642907
• dbSNP Id: rs41297444
• ExAC: 1:213046088 G / A
• gnomAD v2: 1-213046088-G-A
• gnomAD v3: 1-212872746-G-A
• gnomAD v4: 1-212872746-G-A
• MyVariant Identifiers: chr1:g.213046088G>A (hg19) ; chr1:g.212872746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212872746G>A , CM000663.2:g.212872746G>A	GRCh38
NC_000001.10:g.213046088G>A , CM000663.1:g.213046088G>A	GRCh37
NC_000001.9:g.211112711G>A	NCBI36
NG_028131.1:g.19492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.952G>A MANE Select	ENSP00000355938.4:p.Glu318Lys
ENST00000366971.8:c.952G>A	ENSP00000355938.4:p.Glu318Lys
ENST00000419102.1:c.420+8877G>A
ENST00000474693.1:n.177G>A
NM_014053.3:c.952G>A	NP_054772.1:p.Glu318Lys
XM_011509446.1:c.952G>A	XP_011507748.1:p.Glu318Lys
XM_011509447.1:c.*96G>A	XP_011507749.1:n.*96G>A
XM_011509448.1:c.*112G>A	XP_011507750.1:n.*112G>A
XR_247024.1:n.1126G>A
XR_426771.1:n.1253G>A
XR_426772.2:n.1241G>A
XR_921769.1:n.1257G>A
XM_011509446.3:c.952G>A	XP_011507748.1:p.Glu318Lys
XM_011509447.2:c.*96G>A	XP_011507749.1:n.*96G>A
XR_247024.3:n.1126G>A
XR_426772.3:n.1241G>A
NM_014053.4:c.952G>A MANE Select	NP_054772.1:p.Glu318Lys