Canonical Allele Identifier: CA115242
Gene: FLVCR1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.212859026T>C
GRCh37 chr1:g.213032368T>C
Revel Score:
ENST00000366971 (MANE Select) 0.895
gnomAD v2:
1:213032368 T / C
gnomAD v3:
1:212859026 T / C
gnomAD v4:
chr1-212859026-T-C
Joint Max Group AF 0.00000689 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00000532 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212859026T>C , CM000663.2:g.212859026T>C GRCh38
NC_000001.10:g.213032368T>C , CM000663.1:g.213032368T>C GRCh37
NC_000001.9:g.211098991T>C NCBI36
NG_028131.1:g.5772T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366971.9:c.574T>C MANE Select ENSP00000355938.4:p.Cys192Arg
ENST00000366971.8:c.574T>C ENSP00000355938.4:p.Cys192Arg
ENST00000419102.1:c.111T>C
NM_014053.3:c.574T>C NP_054772.1:p.Cys192Arg
XM_011509446.1:c.574T>C XP_011507748.1:p.Cys192Arg
XM_011509447.1:c.574T>C XP_011507749.1:p.Cys192Arg
XM_011509448.1:c.574T>C XP_011507750.1:p.Cys192Arg
XR_247024.1:n.748T>C
XR_426771.1:n.748T>C
XR_426772.2:n.748T>C
XR_921769.1:n.748T>C
XM_011509446.3:c.574T>C XP_011507748.1:p.Cys192Arg
XM_011509447.2:c.574T>C XP_011507749.1:p.Cys192Arg
XR_247024.3:n.748T>C
XR_426772.3:n.748T>C
NM_014053.4:c.574T>C MANE Select NP_054772.1:p.Cys192Arg
Search 100 bp 5'
Search 100 bp 3'