Canonical Allele Identifier: CA175031

Gene: ETV6

Linked Data

• ClinVar Variation Id: 162222
• ClinVar RCV Id: RCV000149804 ; RCV000157611 ; RCV001281572 ; RCV001818340
• dbSNP Id: rs724159947
• COSMIC: COSM1205752
• MyVariant Identifiers: chr12:g.12022535C>T (hg19) ; chr12:g.11869601C>T (hg38)
• CIViC: CA175031
• PubMed: PMID:25581430 ; PMID:25807284

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11869601C>T , CM000674.2:g.11869601C>T	GRCh38
NC_000012.11:g.12022535C>T , CM000674.1:g.12022535C>T	GRCh37
NC_000012.10:g.11913802C>T	NCBI36
NG_011443.1:g.224748C>T , LRG_609:g.224748C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.641C>T MANE Select	ENSP00000379658.3:p.Pro214Leu
ENST00000396373.8:c.641C>T	ENSP00000379658.3:p.Pro214Leu
NM_001987.4:c.641C>T , LRG_609t1:c.641C>T	NP_001978.1:p.Pro214Leu
XM_011520607.1:c.638C>T	XP_011518909.1:p.Pro213Leu
XM_011520608.1:c.614C>T	XP_011518910.1:p.Pro205Leu
XM_011520609.1:c.377C>T	XP_011518911.1:p.Pro126Leu
XM_011520610.1:c.377C>T	XP_011518912.1:p.Pro126Leu
XM_011520611.1:c.377C>T	XP_011518913.1:p.Pro126Leu
XM_011520612.1:c.20C>T	XP_011518914.1:p.Pro7Leu
XM_011520607.2:c.638C>T	XP_011518909.1:p.Pro213Leu
XM_011520608.2:c.614C>T	XP_011518910.1:p.Pro205Leu
XM_011520609.2:c.377C>T	XP_011518911.1:p.Pro126Leu
XM_011520611.2:c.377C>T	XP_011518913.1:p.Pro126Leu
XM_011520612.2:c.20C>T	XP_011518914.1:p.Pro7Leu
XM_017018990.1:c.506C>T	XP_016874479.1:p.Pro169Leu
XM_017018991.1:c.377C>T	XP_016874480.1:p.Pro126Leu
NM_001987.5:c.641C>T MANE Select	NP_001978.1:p.Pro214Leu