Canonical Allele Identifier: CA1890055

Gene: CXCR4

Linked Data

• ClinVar Variation Id: 372600
• ClinVar RCV Id: RCV000413464 ; RCV001057995 ; RCV003151052
• dbSNP Id: rs147214773
• ExAC: 2:136872495 C / T
• gnomAD v2: 2-136872495-C-T
• gnomAD v3: 2-136114925-C-T
• gnomAD v4: 2-136114925-C-T
• MyVariant Identifiers: chr2:g.136872495C>T (hg19) ; chr2:g.136114925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.136114925C>T , CM000664.2:g.136114925C>T	GRCh38
NC_000002.11:g.136872495C>T , CM000664.1:g.136872495C>T	GRCh37
NC_000002.10:g.136588965C>T	NCBI36
NG_011587.1:g.8231G>A , LRG_51:g.8231G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696136.1:c.991G>A	ENSP00000512428.1:p.Gly331Ser
ENST00000696137.1:c.958G>A	ENSP00000512429.1:p.Gly320Ser
ENST00000696152.1:c.958G>A	ENSP00000512443.1:p.Gly320Ser
ENST00000696228.1:c.991G>A	ENSP00000512494.1:p.Gly331Ser
ENST00000241393.4:c.1003G>A MANE Select	ENSP00000241393.3:p.Gly335Ser
ENST00000241393.3:c.1003G>A	ENSP00000241393.3:p.Gly335Ser
ENST00000409817.1:c.1015G>A	ENSP00000386884.1:p.Gly339Ser
ENST00000466288.1:n.1197G>A
NM_001008540.1:c.1015G>A	NP_001008540.1:p.Gly339Ser
NM_003467.2:c.1003G>A , LRG_51t1:c.1003G>A	NP_003458.1:p.Gly335Ser
NM_001008540.2:c.1015G>A	NP_001008540.1:p.Gly339Ser
NM_001348056.1:c.1216G>A	NP_001334985.1:p.Gly406Ser
NM_001348059.1:c.1102G>A	NP_001334988.1:p.Gly368Ser
NM_001348060.1:c.958G>A	NP_001334989.1:p.Gly320Ser
NM_001348056.2:c.1216G>A	NP_001334985.1:p.Gly406Ser
NM_001348059.2:c.1102G>A	NP_001334988.1:p.Gly368Ser
NM_001348060.2:c.958G>A	NP_001334989.1:p.Gly320Ser
NM_003467.3:c.1003G>A MANE Select	NP_003458.1:p.Gly335Ser