Canonical Allele Identifier: CA122676
Gene: CD247 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.167439355G>A , CM000663.2:g.167439355G>A GRCh38
NC_000001.10:g.167408592G>A , CM000663.1:g.167408592G>A GRCh37
NC_000001.9:g.165675216G>A NCBI36
NG_007384.1:g.84255C>T , LRG_36:g.84255C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392122.4:c.208C>T ENSP00000375969.3:p.Gln70Ter
ENST00000470379.2:c.-78C>T ENSP00000514807.1:n.-78C>T
ENST00000476733.6:c.-78C>T ENSP00000514806.1:n.-78C>T
ENST00000483825.6:n.272C>T
ENST00000700105.1:c.208C>T ENSP00000514800.1:p.Gln70Ter
ENST00000700106.1:c.232C>T ENSP00000514802.1:p.Gln78Ter
ENST00000700107.1:c.232C>T ENSP00000514803.1:p.Gln78Ter
ENST00000700108.1:c.-78C>T ENSP00000514804.1:n.-78C>T
ENST00000700109.1:c.-78C>T ENSP00000514805.1:n.-78C>T
ENST00000700111.1:n.272C>T
ENST00000700112.1:n.546C>T
ENST00000700113.1:c.*489C>T ENSP00000514838.1:n.*489C>T
ENST00000700134.1:c.208C>T ENSP00000514822.1:p.Gln70Ter
ENST00000700135.1:n.699C>T
ENST00000700137.1:n.433C>T
ENST00000700138.1:n.234C>T
ENST00000700139.1:n.333C>T
ENST00000700140.1:n.293C>T
ENST00000700141.1:n.293C>T
ENST00000700142.1:c.208C>T ENSP00000514823.1:p.Gln70Ter
ENST00000700143.1:n.172C>T
ENST00000700155.1:c.-78C>T ENSP00000514827.1:n.-78C>T
ENST00000700156.1:c.-78C>T ENSP00000514828.1:n.-78C>T
ENST00000700157.1:c.52C>T ENSP00000514829.1:p.Gln18Ter
ENST00000700158.1:c.-78C>T ENSP00000514830.1:n.-78C>T
ENST00000700159.1:c.208C>T ENSP00000514831.1:p.Gln70Ter
ENST00000700160.1:c.-78C>T ENSP00000514832.1:n.-78C>T
ENST00000700161.1:c.-78C>T ENSP00000514833.1:n.-78C>T
ENST00000700165.1:c.208C>T ENSP00000514836.1:p.Gln70Ter
ENST00000700166.1:n.204C>T
ENST00000700167.1:c.208C>T ENSP00000514837.1:p.Gln70Ter
ENST00000362089.10:c.208C>T MANE Select ENSP00000354782.5:p.Gln70Ter
ENST00000362089.9:c.208C>T ENSP00000354782.5:p.Gln70Ter
ENST00000392122.3:c.208C>T ENSP00000375969.3:p.Gln70Ter
ENST00000470379.1:n.286C>T
ENST00000476733.5:n.267C>T
ENST00000483825.5:n.272C>T
NM_000734.3:c.208C>T NP_000725.1:p.Gln70Ter
NM_198053.2:c.208C>T , LRG_36t1:c.208C>T NP_932170.1:p.Gln70Ter
XM_011510144.1:c.232C>T XP_011508446.1:p.Gln78Ter
XM_011510145.1:c.232C>T XP_011508447.1:p.Gln78Ter
XM_011510144.2:c.232C>T XP_011508446.1:p.Gln78Ter
XM_017002800.1:c.301C>T XP_016858289.1:p.Gln101Ter
XM_017002801.1:c.301C>T XP_016858290.1:p.Gln101Ter
NM_000734.4:c.208C>T NP_000725.1:p.Gln70Ter
NM_001378515.1:c.301C>T NP_001365444.1:p.Gln101Ter
NM_001378516.1:c.301C>T NP_001365445.1:p.Gln101Ter
NM_198053.3:c.208C>T MANE Select NP_932170.1:p.Gln70Ter