Canonical Allele Identifier: CA2650271234

Gene: CR1

Linked Data

• gnomAD v4: 1-207630701-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207630701T>A , CM000663.2:g.207630701T>A	GRCh38
NC_000001.10:g.207804046T>A , CM000663.1:g.207804046T>A	GRCh37
NC_000001.9:g.205870669T>A	NCBI36
NG_007481.1:g.139574T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.7457+80T>A MANE Select	ENSP00000356016.4:n.7457+80T>A
ENST00000367051.6:c.6107+80T>A	ENSP00000356018.1:n.6107+80T>A
ENST00000367052.6:c.6107+80T>A	ENSP00000356019.1:n.6107+80T>A
ENST00000367053.6:c.6107+80T>A	ENSP00000356020.1:n.6107+80T>A
ENST00000400960.7:c.6107+80T>A	ENSP00000383744.2:n.6107+80T>A
ENST00000367049.8:c.7457+80T>A	ENSP00000356016.4:n.7457+80T>A
ENST00000367051.5:c.6107+80T>A	ENSP00000356018.1:n.6107+80T>A
ENST00000367052.5:c.6107+80T>A	ENSP00000356019.1:n.6107+80T>A
ENST00000367053.5:c.6107+80T>A	ENSP00000356020.1:n.6107+80T>A
ENST00000400960.6:c.6107+80T>A	ENSP00000383744.2:n.6107+80T>A
NM_000573.3:c.6107+80T>A	NP_000564.2:n.6107+80T>A
NM_000651.4:c.7457+80T>A	NP_000642.3:n.7457+80T>A
XM_006711166.2:c.7367+7633T>A	XP_006711229.1:n.7367+7633T>A
XM_011509205.1:c.7472+80T>A	XP_011507507.1:n.7472+80T>A
NM_000651.5:c.7457+80T>A	NP_000642.3:n.7457+80T>A
XM_024453287.1:c.6122+80T>A	XP_024309055.1:n.6122+80T>A
NM_000573.4:c.6107+80T>A	NP_000564.2:n.6107+80T>A
NM_000651.6:c.7457+80T>A MANE Select	NP_000642.3:n.7457+80T>A