Canonical Allele Identifier: CA1386044

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 447347
• ClinVar RCV Id: RCV000517279 ; RCV001054506
• dbSNP Id: rs199842709
• ExAC: 1:213056773 A / G
• gnomAD v2: 1-213056773-A-G
• gnomAD v3: 1-212883431-A-G
• gnomAD v4: 1-212883431-A-G
• MyVariant Identifiers: chr1:g.213056773A>G (hg19) ; chr1:g.212883431A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883431A>G , CM000663.2:g.212883431A>G	GRCh38
NC_000001.10:g.213056773A>G , CM000663.1:g.213056773A>G	GRCh37
NC_000001.9:g.211123396A>G	NCBI36
NG_028131.1:g.30177A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366971.9:c.1085A>G MANE Select	ENSP00000355938.4:p.Tyr362Cys
ENST00000366971.8:c.1085A>G	ENSP00000355938.4:p.Tyr362Cys
ENST00000419102.1:c.481A>G
ENST00000474693.1:n.310A>G
ENST00000483790.1:n.23A>G
NM_014053.3:c.1085A>G	NP_054772.1:p.Tyr362Cys
XM_011509446.1:c.1085A>G	XP_011507748.1:p.Tyr362Cys
XR_247024.1:n.1259A>G
XR_426771.1:n.1386A>G
XM_011509446.3:c.1085A>G	XP_011507748.1:p.Tyr362Cys
XR_247024.3:n.1259A>G
NM_014053.4:c.1085A>G MANE Select	NP_054772.1:p.Tyr362Cys