Canonical Allele Identifier: CA384045018

Gene: ETV6

Linked Data

• dbSNP Id: rs1188038379
• gnomAD v4: 12-11886019-T-A
• MyVariant Identifiers: chr12:g.12038953T>A (hg19) ; chr12:g.11886019T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886019T>A , CM000674.2:g.11886019T>A	GRCh38
NC_000012.11:g.12038953T>A , CM000674.1:g.12038953T>A	GRCh37
NC_000012.10:g.11930220T>A	NCBI36
NG_011443.1:g.241166T>A , LRG_609:g.241166T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1246T>A MANE Select	ENSP00000379658.3:p.Leu416Met
ENST00000266427.3:c.83T>A
ENST00000396373.8:c.1246T>A	ENSP00000379658.3:p.Leu416Met
NM_001987.4:c.1246T>A , LRG_609t1:c.1246T>A	NP_001978.1:p.Leu416Met
XM_011520607.1:c.1243T>A	XP_011518909.1:p.Leu415Met
XM_011520608.1:c.1219T>A	XP_011518910.1:p.Leu407Met
XM_011520609.1:c.982T>A	XP_011518911.1:p.Leu328Met
XM_011520610.1:c.982T>A	XP_011518912.1:p.Leu328Met
XM_011520611.1:c.982T>A	XP_011518913.1:p.Leu328Met
XM_011520612.1:c.625T>A	XP_011518914.1:p.Leu209Met
XM_011520607.2:c.1243T>A	XP_011518909.1:p.Leu415Met
XM_011520608.2:c.1219T>A	XP_011518910.1:p.Leu407Met
XM_011520609.2:c.982T>A	XP_011518911.1:p.Leu328Met
XM_011520611.2:c.982T>A	XP_011518913.1:p.Leu328Met
XM_011520612.2:c.625T>A	XP_011518914.1:p.Leu209Met
XM_017018990.1:c.1111T>A	XP_016874479.1:p.Leu371Met
XM_017018991.1:c.982T>A	XP_016874480.1:p.Leu328Met
NM_001987.5:c.1246T>A MANE Select	NP_001978.1:p.Leu416Met