Canonical Allele Identifier: CA31966058

Gene: CD247

Linked Data

• dbSNP Id: rs777628000
• gnomAD v2: 1-167420353-T-C
• gnomAD v3: 1-167451116-T-C
• gnomAD v4: 1-167451116-T-C
• MyVariant Identifiers: chr1:g.167420353T>C (hg19) ; chr1:g.167451116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167451116T>C , CM000663.2:g.167451116T>C	GRCh38
NC_000001.10:g.167420353T>C , CM000663.1:g.167420353T>C	GRCh37
NC_000001.9:g.165686977T>C	NCBI36
NG_007384.1:g.72494A>G , LRG_36:g.72494A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392122.4:c.59-10349A>G	ENSP00000375969.3:n.59-10349A>G
ENST00000479979.2:n.132-10349A>G
ENST00000483825.6:n.123-10349A>G
ENST00000700105.1:c.59-10349A>G	ENSP00000514800.1:n.59-10349A>G
ENST00000700106.1:c.-63-2629A>G	ENSP00000514802.1:n.-63-2629A>G
ENST00000700107.1:c.-63-2629A>G	ENSP00000514803.1:n.-63-2629A>G
ENST00000700108.1:c.-536-6665A>G	ENSP00000514804.1:n.-536-6665A>G
ENST00000700109.1:c.-536-6665A>G	ENSP00000514805.1:n.-536-6665A>G
ENST00000700111.1:n.123-10349A>G
ENST00000700113.1:c.*340-10349A>G	ENSP00000514838.1:n.*340-10349A>G
ENST00000700134.1:c.59-10349A>G	ENSP00000514822.1:n.59-10349A>G
ENST00000700138.1:n.84+5061A>G
ENST00000700139.1:n.184-10349A>G
ENST00000700140.1:n.144-10349A>G
ENST00000700141.1:n.144-10349A>G
ENST00000700142.1:c.59-10349A>G	ENSP00000514823.1:n.59-10349A>G
ENST00000700143.1:n.22+4364A>G
ENST00000700158.1:c.-228+4364A>G	ENSP00000514830.1:n.-228+4364A>G
ENST00000700159.1:c.59-10349A>G	ENSP00000514831.1:n.59-10349A>G
ENST00000700160.1:c.-227-10349A>G	ENSP00000514832.1:n.-227-10349A>G
ENST00000700165.1:c.59-10349A>G	ENSP00000514836.1:n.59-10349A>G
ENST00000700166.1:n.54+1970A>G
ENST00000700167.1:c.59-10349A>G	ENSP00000514837.1:n.59-10349A>G
ENST00000700169.1:n.62+4364A>G
ENST00000362089.10:c.59-10349A>G MANE Select	ENSP00000354782.5:n.59-10349A>G
ENST00000362089.9:c.59-10349A>G	ENSP00000354782.5:n.59-10349A>G
ENST00000392122.3:c.59-10349A>G	ENSP00000375969.3:n.59-10349A>G
ENST00000479979.1:n.204-10349A>G
ENST00000483825.5:n.123-10349A>G
NM_000734.3:c.59-10349A>G	NP_000725.1:n.59-10349A>G
NM_198053.2:c.59-10349A>G , LRG_36t1:c.59-10349A>G	NP_932170.1:n.59-10349A>G
XM_011510144.1:c.-63-2629A>G	XP_011508446.1:n.-63-2629A>G
XM_011510145.1:c.-63-2629A>G	XP_011508447.1:n.-63-2629A>G
XM_011510144.2:c.-63-2629A>G	XP_011508446.1:n.-63-2629A>G
XM_017002800.1:c.152-10349A>G	XP_016858289.1:n.152-10349A>G
XM_017002801.1:c.152-10349A>G	XP_016858290.1:n.152-10349A>G
NM_000734.4:c.59-10349A>G	NP_000725.1:n.59-10349A>G
NM_001378515.1:c.152-10349A>G	NP_001365444.1:n.152-10349A>G
NM_001378516.1:c.152-10349A>G	NP_001365445.1:n.152-10349A>G
NM_198053.3:c.59-10349A>G MANE Select	NP_932170.1:n.59-10349A>G