Canonical Allele Identifier: CA528685118

Gene: FLVCR1

Linked Data

• dbSNP Id: rs1401012915
• gnomAD v2: 1-213057001-A-G
• gnomAD v3: 1-212883659-A-G
• gnomAD v4: 1-212883659-A-G
• MyVariant Identifiers: chr1:g.213057001A>G (hg19) ; chr1:g.212883659A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883659A>G , CM000663.2:g.212883659A>G	GRCh38
NC_000001.10:g.213057001A>G , CM000663.1:g.213057001A>G	GRCh37
NC_000001.9:g.211123624A>G	NCBI36
NG_028131.1:g.30405A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1092+221A>G MANE Select	ENSP00000355938.4:n.1092+221A>G
ENST00000366971.8:c.1092+221A>G	ENSP00000355938.4:n.1092+221A>G
ENST00000419102.1:c.488+221A>G
ENST00000474693.1:n.317+221A>G
ENST00000483790.1:n.30+221A>G
NM_014053.3:c.1092+221A>G	NP_054772.1:n.1092+221A>G
XM_011509446.1:c.1092+221A>G	XP_011507748.1:n.1092+221A>G
XR_247024.1:n.1266+221A>G
XR_426771.1:n.1393+221A>G
XM_011509446.3:c.1092+221A>G	XP_011507748.1:n.1092+221A>G
XR_247024.3:n.1266+221A>G
NM_014053.4:c.1092+221A>G MANE Select	NP_054772.1:n.1092+221A>G