Canonical Allele Identifier: CA1386043
Gene: FLVCR1 HGNC NCBI

Linked Data

dbSNP Id: rs757631822
ExAC: 1:213056770 C / G
gnomAD v2: 1-213056770-C-G
gnomAD v3: 1-212883428-C-G
gnomAD v4: 1-212883428-C-G
MyVariant Identifiers: chr1:g.213056770C>G (hg19) chr1:g.212883428C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212883428C>G , CM000663.2:g.212883428C>G GRCh38
NC_000001.10:g.213056770C>G , CM000663.1:g.213056770C>G GRCh37
NC_000001.9:g.211123393C>G NCBI36
NG_028131.1:g.30174C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000366971.9:c.1082C>G MANE Select ENSP00000355938.4:p.Thr361Arg
ENST00000366971.8:c.1082C>G ENSP00000355938.4:p.Thr361Arg
ENST00000419102.1:c.478C>G
ENST00000474693.1:n.307C>G
ENST00000483790.1:n.20C>G
NM_014053.3:c.1082C>G NP_054772.1:p.Thr361Arg
XM_011509446.1:c.1082C>G XP_011507748.1:p.Thr361Arg
XR_247024.1:n.1256C>G
XR_426771.1:n.1383C>G
XM_011509446.3:c.1082C>G XP_011507748.1:p.Thr361Arg
XR_247024.3:n.1256C>G
NM_014053.4:c.1082C>G MANE Select NP_054772.1:p.Thr361Arg
Search 100 bp 5'
Search 100 bp 3'