Canonical Allele Identifier: CA6454394
Gene: ETV6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11884493G>A , CM000674.2:g.11884493G>A GRCh38
NC_000012.11:g.12037427G>A , CM000674.1:g.12037427G>A GRCh37
NC_000012.10:g.11928694G>A NCBI36
NG_011443.1:g.239640G>A , LRG_609:g.239640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000396373.9:c.1058G>A MANE Select ENSP00000379658.3:p.Arg353Gln
ENST00000396373.8:c.1058G>A ENSP00000379658.3:p.Arg353Gln
NM_001987.4:c.1058G>A , LRG_609t1:c.1058G>A NP_001978.1:p.Arg353Gln
XM_011520607.1:c.1055G>A XP_011518909.1:p.Arg352Gln
XM_011520608.1:c.1031G>A XP_011518910.1:p.Arg344Gln
XM_011520609.1:c.794G>A XP_011518911.1:p.Arg265Gln
XM_011520610.1:c.794G>A XP_011518912.1:p.Arg265Gln
XM_011520611.1:c.794G>A XP_011518913.1:p.Arg265Gln
XM_011520612.1:c.437G>A XP_011518914.1:p.Arg146Gln
XM_011520607.2:c.1055G>A XP_011518909.1:p.Arg352Gln
XM_011520608.2:c.1031G>A XP_011518910.1:p.Arg344Gln
XM_011520609.2:c.794G>A XP_011518911.1:p.Arg265Gln
XM_011520611.2:c.794G>A XP_011518913.1:p.Arg265Gln
XM_011520612.2:c.437G>A XP_011518914.1:p.Arg146Gln
XM_017018990.1:c.923G>A XP_016874479.1:p.Arg308Gln
XM_017018991.1:c.794G>A XP_016874480.1:p.Arg265Gln
NM_001987.5:c.1058G>A MANE Select NP_001978.1:p.Arg353Gln