Canonical Allele Identifier: CA2650268361

Gene: CR1

Linked Data

• gnomAD v4: 1-207580192-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580192G>C , CM000663.2:g.207580192G>C	GRCh38
NC_000001.10:g.207753537G>C , CM000663.1:g.207753537G>C	GRCh37
NC_000001.9:g.205820160G>C	NCBI36
NG_007481.1:g.89065G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.4937-48G>C MANE Select	ENSP00000356016.4:n.4937-48G>C
ENST00000367051.6:c.3587-48G>C	ENSP00000356018.1:n.3587-48G>C
ENST00000367052.6:c.3587-48G>C	ENSP00000356019.1:n.3587-48G>C
ENST00000367053.6:c.3587-48G>C	ENSP00000356020.1:n.3587-48G>C
ENST00000400960.7:c.3587-48G>C	ENSP00000383744.2:n.3587-48G>C
ENST00000367049.8:c.4937-48G>C	ENSP00000356016.4:n.4937-48G>C
ENST00000367051.5:c.3587-48G>C	ENSP00000356018.1:n.3587-48G>C
ENST00000367052.5:c.3587-48G>C	ENSP00000356019.1:n.3587-48G>C
ENST00000367053.5:c.3587-48G>C	ENSP00000356020.1:n.3587-48G>C
ENST00000400960.6:c.3587-48G>C	ENSP00000383744.2:n.3587-48G>C
ENST00000529814.1:c.1179+14269G>C
ENST00000534202.5:c.*702-48G>C	ENSP00000436139.2:n.*702-48G>C
NM_000573.3:c.3587-48G>C	NP_000564.2:n.3587-48G>C
NM_000651.4:c.4937-48G>C	NP_000642.3:n.4937-48G>C
XM_006711166.2:c.4952-48G>C	XP_006711229.1:n.4952-48G>C
XM_011509205.1:c.4952-48G>C	XP_011507507.1:n.4952-48G>C
NM_000651.5:c.4937-48G>C	NP_000642.3:n.4937-48G>C
XM_024453287.1:c.3602-48G>C	XP_024309055.1:n.3602-48G>C
NM_000573.4:c.3587-48G>C	NP_000564.2:n.3587-48G>C
NM_000651.6:c.4937-48G>C MANE Select	NP_000642.3:n.4937-48G>C