Canonical Allele Identifier: CA343462656

Gene: CD247

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167438620C>T , CM000663.2:g.167438620C>T	GRCh38
NC_000001.10:g.167407857C>T , CM000663.1:g.167407857C>T	GRCh37
NC_000001.9:g.165674481C>T	NCBI36
NG_007384.1:g.84990G>A , LRG_36:g.84990G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198053.3:c.250G>A MANE Select	NP_932170.1:p.Asp84Asn
ENST00000362089.10:c.250G>A MANE Select	ENSP00000354782.5:p.Asp84Asn
NM_000734.3:c.250G>A	NP_000725.1:p.Asp84Asn
NM_000734.4:c.250G>A	NP_000725.1:p.Asp84Asn
NM_001378515.1:c.343G>A	NP_001365444.1:p.Asp115Asn
NM_001378516.1:c.343G>A	NP_001365445.1:p.Asp115Asn
NM_198053.2:c.250G>A , LRG_36t1:c.250G>A	NP_932170.1:p.Asp84Asn
ENST00000362089.9:c.250G>A	ENSP00000354782.5:p.Asp84Asn
ENST00000392122.3:c.250G>A	ENSP00000375969.3:p.Asp84Asn
ENST00000392122.4:c.250G>A	ENSP00000375969.3:p.Asp84Asn
ENST00000470379.1:n.328G>A
ENST00000470379.2:c.-36G>A	ENSP00000514807.1:n.-36G>A
ENST00000476733.5:n.309G>A
ENST00000476733.6:c.-36G>A	ENSP00000514806.1:n.-36G>A
ENST00000483825.5:n.314G>A
ENST00000483825.6:n.314G>A
ENST00000700105.1:c.250G>A	ENSP00000514800.1:p.Asp84Asn
ENST00000700106.1:c.274G>A	ENSP00000514802.1:p.Asp92Asn
ENST00000700107.1:c.274G>A	ENSP00000514803.1:p.Asp92Asn
ENST00000700108.1:c.-36G>A	ENSP00000514804.1:n.-36G>A
ENST00000700109.1:c.-36G>A	ENSP00000514805.1:n.-36G>A
ENST00000700110.1:n.192G>A
ENST00000700113.1:c.*531G>A	ENSP00000514838.1:n.*531G>A
ENST00000700134.1:c.250G>A	ENSP00000514822.1:p.Asp84Asn
ENST00000700135.1:n.741G>A
ENST00000700137.1:n.475G>A
ENST00000700138.1:n.276G>A
ENST00000700139.1:n.375G>A
ENST00000700140.1:n.335G>A
ENST00000700141.1:n.335G>A
ENST00000700142.1:c.250G>A	ENSP00000514823.1:p.Asp84Asn
ENST00000700155.1:c.-36G>A	ENSP00000514827.1:n.-36G>A
ENST00000700156.1:c.-36G>A	ENSP00000514828.1:n.-36G>A
ENST00000700157.1:c.94G>A	ENSP00000514829.1:p.Asp32Asn
ENST00000700158.1:c.-36G>A	ENSP00000514830.1:n.-36G>A
ENST00000700159.1:c.250G>A	ENSP00000514831.1:p.Asp84Asn
ENST00000700160.1:c.-36G>A	ENSP00000514832.1:n.-36G>A
ENST00000700161.1:c.-36G>A	ENSP00000514833.1:n.-36G>A
ENST00000700165.1:c.250G>A	ENSP00000514836.1:p.Asp84Asn
ENST00000700166.1:n.246G>A
ENST00000700167.1:c.250G>A	ENSP00000514837.1:p.Asp84Asn
XM_011510144.1:c.274G>A	XP_011508446.1:p.Asp92Asn
XM_011510144.2:c.274G>A	XP_011508446.1:p.Asp92Asn
XM_011510145.1:c.274G>A	XP_011508447.1:p.Asp92Asn
XM_017002800.1:c.343G>A	XP_016858289.1:p.Asp115Asn
XM_017002801.1:c.343G>A	XP_016858290.1:p.Asp115Asn