Canonical Allele Identifier: CA36889245

Gene: FLVCR1

Linked Data

• dbSNP Id: rs746240195
• gnomAD v2: 1-213057120-T-G
• gnomAD v3: 1-212883778-T-G
• gnomAD v4: 1-212883778-T-G
• MyVariant Identifiers: chr1:g.213057120T>G (hg19) ; chr1:g.212883778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883778T>G , CM000663.2:g.212883778T>G	GRCh38
NC_000001.10:g.213057120T>G , CM000663.1:g.213057120T>G	GRCh37
NC_000001.9:g.211123743T>G	NCBI36
NG_028131.1:g.30524T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1092+340T>G MANE Select	ENSP00000355938.4:n.1092+340T>G
ENST00000366971.8:c.1092+340T>G	ENSP00000355938.4:n.1092+340T>G
ENST00000419102.1:c.488+340T>G
ENST00000474693.1:n.317+340T>G
ENST00000483790.1:n.30+340T>G
NM_014053.3:c.1092+340T>G	NP_054772.1:n.1092+340T>G
XM_011509446.1:c.1092+340T>G	XP_011507748.1:n.1092+340T>G
XR_247024.1:n.1266+340T>G
XR_426771.1:n.1393+340T>G
XM_011509446.3:c.1092+340T>G	XP_011507748.1:n.1092+340T>G
XR_247024.3:n.1266+340T>G
NM_014053.4:c.1092+340T>G MANE Select	NP_054772.1:n.1092+340T>G