Canonical Allele Identifier: CA348659218

Gene: CXCR4

Linked Data

• gnomAD v4: 2-136115527-C-T
• COSMIC: COSM1669274
• MyVariant Identifiers: chr2:g.136873097C>T (hg19) ; chr2:g.136115527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.136115527C>T , CM000664.2:g.136115527C>T	GRCh38
NC_000002.11:g.136873097C>T , CM000664.1:g.136873097C>T	GRCh37
NC_000002.10:g.136589567C>T	NCBI36
NG_011587.1:g.7629G>A , LRG_51:g.7629G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696136.1:c.389G>A	ENSP00000512428.1:p.Arg130His
ENST00000696137.1:c.356G>A	ENSP00000512429.1:p.Arg119His
ENST00000696152.1:c.356G>A	ENSP00000512443.1:p.Arg119His
ENST00000696228.1:c.389G>A	ENSP00000512494.1:p.Arg130His
ENST00000241393.4:c.401G>A MANE Select	ENSP00000241393.3:p.Arg134His
ENST00000241393.3:c.401G>A	ENSP00000241393.3:p.Arg134His
ENST00000409817.1:c.413G>A	ENSP00000386884.1:p.Arg138His
ENST00000466288.1:n.595G>A
NM_001008540.1:c.413G>A	NP_001008540.1:p.Arg138His
NM_003467.2:c.401G>A , LRG_51t1:c.401G>A	NP_003458.1:p.Arg134His
NM_001008540.2:c.413G>A	NP_001008540.1:p.Arg138His
NM_001348056.1:c.614G>A	NP_001334985.1:p.Arg205His
NM_001348059.1:c.500G>A	NP_001334988.1:p.Arg167His
NM_001348060.1:c.356G>A	NP_001334989.1:p.Arg119His
NM_001348056.2:c.614G>A	NP_001334985.1:p.Arg205His
NM_001348059.2:c.500G>A	NP_001334988.1:p.Arg167His
NM_001348060.2:c.356G>A	NP_001334989.1:p.Arg119His
NM_003467.3:c.401G>A MANE Select	NP_003458.1:p.Arg134His