Canonical Allele Identifier: CA1386045

Gene: FLVCR1

Linked Data

• dbSNP Id: rs746297154
• ExAC: 1:213056777 T / C
• gnomAD v2: 1-213056777-T-C
• gnomAD v4: 1-212883435-T-C
• MyVariant Identifiers: chr1:g.213056777T>C (hg19) ; chr1:g.212883435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883435T>C , CM000663.2:g.212883435T>C	GRCh38
NC_000001.10:g.213056777T>C , CM000663.1:g.213056777T>C	GRCh37
NC_000001.9:g.211123400T>C	NCBI36
NG_028131.1:g.30181T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1089T>C MANE Select	ENSP00000355938.4:p.Tyr363=
ENST00000366971.8:c.1089T>C	ENSP00000355938.4:p.Tyr363=
ENST00000419102.1:c.485T>C
ENST00000474693.1:n.314T>C
ENST00000483790.1:n.27T>C
NM_014053.3:c.1089T>C	NP_054772.1:p.Tyr363=
XM_011509446.1:c.1089T>C	XP_011507748.1:p.Tyr363=
XR_247024.1:n.1263T>C
XR_426771.1:n.1390T>C
XM_011509446.3:c.1089T>C	XP_011507748.1:p.Tyr363=
XR_247024.3:n.1263T>C
NM_014053.4:c.1089T>C MANE Select	NP_054772.1:p.Tyr363=