Canonical Allele Identifier: CA1386046
Gene: FLVCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374768
dbSNP Id: rs556788423

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212883443G>A , CM000663.2:g.212883443G>A GRCh38
NC_000001.10:g.213056785G>A , CM000663.1:g.213056785G>A GRCh37
NC_000001.9:g.211123408G>A NCBI36
NG_028131.1:g.30189G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000366971.9:c.1092+5G>A MANE Select ENSP00000355938.4:n.1092+5G>A
ENST00000366971.8:c.1092+5G>A ENSP00000355938.4:n.1092+5G>A
ENST00000419102.1:c.488+5G>A
ENST00000474693.1:n.317+5G>A
ENST00000483790.1:n.30+5G>A
NM_014053.3:c.1092+5G>A NP_054772.1:n.1092+5G>A
XM_011509446.1:c.1092+5G>A XP_011507748.1:n.1092+5G>A
XR_247024.1:n.1266+5G>A
XR_426771.1:n.1393+5G>A
XM_011509446.3:c.1092+5G>A XP_011507748.1:n.1092+5G>A
XR_247024.3:n.1266+5G>A
NM_014053.4:c.1092+5G>A MANE Select NP_054772.1:n.1092+5G>A