Canonical Allele Identifier: CA730639949

Gene: CR1

Linked Data

• dbSNP Id: rs117447527
• gnomAD v3: 1-207580202-C-T
• gnomAD v4: 1-207580202-C-T
• MyVariant Identifiers: chr1:g.207753547C>T (hg19) ; chr1:g.207580202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.207580202C>T , CM000663.2:g.207580202C>T	GRCh38
NC_000001.10:g.207753547C>T , CM000663.1:g.207753547C>T	GRCh37
NC_000001.9:g.205820170C>T	NCBI36
NG_007481.1:g.89075C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367049.9:c.4937-38C>T MANE Select	ENSP00000356016.4:n.4937-38C>T
ENST00000367051.6:c.3587-38C>T	ENSP00000356018.1:n.3587-38C>T
ENST00000367052.6:c.3587-38C>T	ENSP00000356019.1:n.3587-38C>T
ENST00000367053.6:c.3587-38C>T	ENSP00000356020.1:n.3587-38C>T
ENST00000400960.7:c.3587-38C>T	ENSP00000383744.2:n.3587-38C>T
ENST00000367049.8:c.4937-38C>T	ENSP00000356016.4:n.4937-38C>T
ENST00000367051.5:c.3587-38C>T	ENSP00000356018.1:n.3587-38C>T
ENST00000367052.5:c.3587-38C>T	ENSP00000356019.1:n.3587-38C>T
ENST00000367053.5:c.3587-38C>T	ENSP00000356020.1:n.3587-38C>T
ENST00000400960.6:c.3587-38C>T	ENSP00000383744.2:n.3587-38C>T
ENST00000529814.1:c.1179+14279C>T
ENST00000534202.5:c.*702-38C>T	ENSP00000436139.2:n.*702-38C>T
NM_000573.3:c.3587-38C>T	NP_000564.2:n.3587-38C>T
NM_000651.4:c.4937-38C>T	NP_000642.3:n.4937-38C>T
XM_006711166.2:c.4952-38C>T	XP_006711229.1:n.4952-38C>T
XM_011509205.1:c.4952-38C>T	XP_011507507.1:n.4952-38C>T
NM_000651.5:c.4937-38C>T	NP_000642.3:n.4937-38C>T
XM_024453287.1:c.3602-38C>T	XP_024309055.1:n.3602-38C>T
NM_000573.4:c.3587-38C>T	NP_000564.2:n.3587-38C>T
NM_000651.6:c.4937-38C>T MANE Select	NP_000642.3:n.4937-38C>T