Canonical Allele Identifier: CA1386041
Gene: FLVCR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374975
ClinVar RCV Id: RCV001900746
dbSNP Id: rs778581914
ExAC: 1:213056762 G / C
gnomAD v2: 1-213056762-G-C
gnomAD v4: 1-212883420-G-C
MyVariant Identifiers: chr1:g.213056762G>C (hg19) chr1:g.212883420G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.212883420G>C , CM000663.2:g.212883420G>C GRCh38
NC_000001.10:g.213056762G>C , CM000663.1:g.213056762G>C GRCh37
NC_000001.9:g.211123385G>C NCBI36
NG_028131.1:g.30166G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366971.9:c.1074G>C MANE Select ENSP00000355938.4:p.Met358Ile
ENST00000366971.8:c.1074G>C ENSP00000355938.4:p.Met358Ile
ENST00000419102.1:c.470G>C
ENST00000474693.1:n.299G>C
ENST00000483790.1:n.12G>C
NM_014053.3:c.1074G>C NP_054772.1:p.Met358Ile
XM_011509446.1:c.1074G>C XP_011507748.1:p.Met358Ile
XR_247024.1:n.1248G>C
XR_426771.1:n.1375G>C
XM_011509446.3:c.1074G>C XP_011507748.1:p.Met358Ile
XR_247024.3:n.1248G>C
NM_014053.4:c.1074G>C MANE Select NP_054772.1:p.Met358Ile
Search 100 bp 5'
Search 100 bp 3'