Canonical Allele Identifier: CA1385937

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 295317
• ClinVar RCV Id: RCV000299297 ; RCV000517649 ; RCV001698584 ; RCV003967836
• dbSNP Id: rs41296696
• ExAC: 1:213032541 T / C
• gnomAD v2: 1-213032541-T-C
• gnomAD v3: 1-212859199-T-C
• gnomAD v4: 1-212859199-T-C
• MyVariant Identifiers: chr1:g.213032541T>C (hg19) ; chr1:g.212859199T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212859199T>C , CM000663.2:g.212859199T>C	GRCh38
NC_000001.10:g.213032541T>C , CM000663.1:g.213032541T>C	GRCh37
NC_000001.9:g.211099164T>C	NCBI36
NG_028131.1:g.5945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.738+9T>C MANE Select	ENSP00000355938.4:n.738+9T>C
ENST00000366971.8:c.738+9T>C	ENSP00000355938.4:n.738+9T>C
ENST00000419102.1:c.275+9T>C
NM_014053.3:c.738+9T>C	NP_054772.1:n.738+9T>C
XM_011509446.1:c.738+9T>C	XP_011507748.1:n.738+9T>C
XM_011509447.1:c.738+9T>C	XP_011507749.1:n.738+9T>C
XM_011509448.1:c.738+9T>C	XP_011507750.1:n.738+9T>C
XR_247024.1:n.912+9T>C
XR_426771.1:n.912+9T>C
XR_426772.2:n.912+9T>C
XR_921769.1:n.912+9T>C
XM_011509446.3:c.738+9T>C	XP_011507748.1:n.738+9T>C
XM_011509447.2:c.738+9T>C	XP_011507749.1:n.738+9T>C
XR_247024.3:n.912+9T>C
XR_426772.3:n.912+9T>C
NM_014053.4:c.738+9T>C MANE Select	NP_054772.1:n.738+9T>C