Canonical Allele Identifier: CA36889191

Gene: FLVCR1

Linked Data

• dbSNP Id: rs1028150648
• gnomAD v2: 1-213056982-G-A
• gnomAD v3: 1-212883640-G-A
• gnomAD v4: 1-212883640-G-A
• MyVariant Identifiers: chr1:g.213056982G>A (hg19) ; chr1:g.212883640G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883640G>A , CM000663.2:g.212883640G>A	GRCh38
NC_000001.10:g.213056982G>A , CM000663.1:g.213056982G>A	GRCh37
NC_000001.9:g.211123605G>A	NCBI36
NG_028131.1:g.30386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1092+202G>A MANE Select	ENSP00000355938.4:n.1092+202G>A
ENST00000366971.8:c.1092+202G>A	ENSP00000355938.4:n.1092+202G>A
ENST00000419102.1:c.488+202G>A
ENST00000474693.1:n.317+202G>A
ENST00000483790.1:n.30+202G>A
NM_014053.3:c.1092+202G>A	NP_054772.1:n.1092+202G>A
XM_011509446.1:c.1092+202G>A	XP_011507748.1:n.1092+202G>A
XR_247024.1:n.1266+202G>A
XR_426771.1:n.1393+202G>A
XM_011509446.3:c.1092+202G>A	XP_011507748.1:n.1092+202G>A
XR_247024.3:n.1266+202G>A
NM_014053.4:c.1092+202G>A MANE Select	NP_054772.1:n.1092+202G>A