Canonical Allele Identifier: CA1386038

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 295322
• ClinVar RCV Id: RCV000269781 ; RCV001660569 ; RCV002059426
• dbSNP Id: rs550517136
• ExAC: 1:213056747 G / A
• gnomAD v2: 1-213056747-G-A
• gnomAD v3: 1-212883405-G-A
• gnomAD v4: 1-212883405-G-A
• MyVariant Identifiers: chr1:g.213056747G>A (hg19) ; chr1:g.212883405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883405G>A , CM000663.2:g.212883405G>A	GRCh38
NC_000001.10:g.213056747G>A , CM000663.1:g.213056747G>A	GRCh37
NC_000001.9:g.211123370G>A	NCBI36
NG_028131.1:g.30151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1059G>A MANE Select	ENSP00000355938.4:p.Thr353=
ENST00000366971.8:c.1059G>A	ENSP00000355938.4:p.Thr353=
ENST00000419102.1:c.455G>A
ENST00000474693.1:n.284G>A
NM_014053.3:c.1059G>A	NP_054772.1:p.Thr353=
XM_011509446.1:c.1059G>A	XP_011507748.1:p.Thr353=
XR_247024.1:n.1233G>A
XR_426771.1:n.1360G>A
XM_011509446.3:c.1059G>A	XP_011507748.1:p.Thr353=
XR_247024.3:n.1233G>A
NM_014053.4:c.1059G>A MANE Select	NP_054772.1:p.Thr353=