Canonical Allele Identifier: CA384045036

Gene: ETV6

Linked Data

• ClinVar Variation Id: 2031749
• ClinVar RCV Id: RCV002898916
• gnomAD v4: 12-11886026-G-T
• COSMIC: COSM6448539
• MyVariant Identifiers: chr12:g.12038960G>T (hg19) ; chr12:g.11886026G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886026G>T , CM000674.2:g.11886026G>T	GRCh38
NC_000012.11:g.12038960G>T , CM000674.1:g.12038960G>T	GRCh37
NC_000012.10:g.11930227G>T	NCBI36
NG_011443.1:g.241173G>T , LRG_609:g.241173G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000396373.9:c.1253G>T MANE Select	ENSP00000379658.3:p.Arg418Met
ENST00000266427.3:c.90G>T
ENST00000396373.8:c.1253G>T	ENSP00000379658.3:p.Arg418Met
NM_001987.4:c.1253G>T , LRG_609t1:c.1253G>T	NP_001978.1:p.Arg418Met
XM_011520607.1:c.1250G>T	XP_011518909.1:p.Arg417Met
XM_011520608.1:c.1226G>T	XP_011518910.1:p.Arg409Met
XM_011520609.1:c.989G>T	XP_011518911.1:p.Arg330Met
XM_011520610.1:c.989G>T	XP_011518912.1:p.Arg330Met
XM_011520611.1:c.989G>T	XP_011518913.1:p.Arg330Met
XM_011520612.1:c.632G>T	XP_011518914.1:p.Arg211Met
XM_011520607.2:c.1250G>T	XP_011518909.1:p.Arg417Met
XM_011520608.2:c.1226G>T	XP_011518910.1:p.Arg409Met
XM_011520609.2:c.989G>T	XP_011518911.1:p.Arg330Met
XM_011520611.2:c.989G>T	XP_011518913.1:p.Arg330Met
XM_011520612.2:c.632G>T	XP_011518914.1:p.Arg211Met
XM_017018990.1:c.1118G>T	XP_016874479.1:p.Arg373Met
XM_017018991.1:c.989G>T	XP_016874480.1:p.Arg330Met
NM_001987.5:c.1253G>T MANE Select	NP_001978.1:p.Arg418Met