Canonical Allele Identifier: CA36889097

Gene: FLVCR1

Linked Data

• dbSNP Id: rs557486010
• gnomAD v2: 1-213056898-A-T
• gnomAD v3: 1-212883556-A-T
• gnomAD v4: 1-212883556-A-T
• MyVariant Identifiers: chr1:g.213056898A>T (hg19) ; chr1:g.212883556A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883556A>T , CM000663.2:g.212883556A>T	GRCh38
NC_000001.10:g.213056898A>T , CM000663.1:g.213056898A>T	GRCh37
NC_000001.9:g.211123521A>T	NCBI36
NG_028131.1:g.30302A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1092+118A>T MANE Select	ENSP00000355938.4:n.1092+118A>T
ENST00000366971.8:c.1092+118A>T	ENSP00000355938.4:n.1092+118A>T
ENST00000419102.1:c.488+118A>T
ENST00000474693.1:n.317+118A>T
ENST00000483790.1:n.30+118A>T
NM_014053.3:c.1092+118A>T	NP_054772.1:n.1092+118A>T
XM_011509446.1:c.1092+118A>T	XP_011507748.1:n.1092+118A>T
XR_247024.1:n.1266+118A>T
XR_426771.1:n.1393+118A>T
XM_011509446.3:c.1092+118A>T	XP_011507748.1:n.1092+118A>T
XR_247024.3:n.1266+118A>T
NM_014053.4:c.1092+118A>T MANE Select	NP_054772.1:n.1092+118A>T