Canonical Allele Identifier: CA1386111
Gene: FLVCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 518312
ClinVar RCV Id: RCV000610638 RCV001522442 RCV001700173
dbSNP Id: rs2291772
ExAC: 1:213061362 T / A
gnomAD v2: 1-213061362-T-A
gnomAD v3: 1-212888020-T-A
gnomAD v4: 1-212888020-T-A
MyVariant Identifiers: chr1:g.213061362T>A (hg19) chr1:g.212888020T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212888020T>A , CM000663.2:g.212888020T>A GRCh38
NC_000001.10:g.213061362T>A , CM000663.1:g.213061362T>A GRCh37
NC_000001.9:g.211127985T>A NCBI36
NG_028131.1:g.34766T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366971.9:c.1307+19T>A MANE Select ENSP00000355938.4:n.1307+19T>A
ENST00000366971.8:c.1307+19T>A ENSP00000355938.4:n.1307+19T>A
ENST00000419102.1:c.703+19T>A
ENST00000483790.1:n.135-469T>A
NM_014053.3:c.1307+19T>A NP_054772.1:n.1307+19T>A
XM_011509446.1:c.1197-469T>A XP_011507748.1:n.1197-469T>A
XR_247024.1:n.1481+19T>A
XM_011509446.3:c.1197-469T>A XP_011507748.1:n.1197-469T>A
XR_247024.3:n.1481+19T>A
NM_014053.4:c.1307+19T>A MANE Select NP_054772.1:n.1307+19T>A
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