Canonical Allele Identifier: CA1386229

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 295326
• ClinVar RCV Id: RCV000387027 ; RCV000422945 ; RCV001074738 ; RCV002519488 ; RCV003930223
• dbSNP Id: rs149887215
• ExAC: 1:213068621 T / G
• gnomAD v2: 1-213068621-T-G
• gnomAD v3: 1-212895279-T-G
• gnomAD v4: 1-212895279-T-G
• MyVariant Identifiers: chr1:g.213068621T>G (hg19) ; chr1:g.212895279T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212895279T>G , CM000663.2:g.212895279T>G	GRCh38
NC_000001.10:g.213068621T>G , CM000663.1:g.213068621T>G	GRCh37
NC_000001.9:g.211135244T>G	NCBI36
NG_028131.1:g.42025T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1657T>G MANE Select	ENSP00000355938.4:p.Ser553Ala
ENST00000366971.8:c.1657T>G	ENSP00000355938.4:p.Ser553Ala
ENST00000419102.1:c.1053T>G
ENST00000483790.1:n.484T>G
NM_014053.3:c.1657T>G	NP_054772.1:p.Ser553Ala
XM_011509446.1:c.1546T>G	XP_011507748.1:p.Ser516Ala
XR_247024.1:n.1831T>G
XM_011509446.3:c.1546T>G	XP_011507748.1:p.Ser516Ala
XR_247024.3:n.1831T>G
NM_014053.4:c.1657T>G MANE Select	NP_054772.1:p.Ser553Ala