Canonical Allele Identifier: CA478767195
Gene: ETV6 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.12038868A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11885934A>C , CM000674.2:g.11885934A>C GRCh38
NC_000012.11:g.12038868A>C , CM000674.1:g.12038868A>C GRCh37
NC_000012.10:g.11930135A>C NCBI36
NG_011443.1:g.241081A>C , LRG_609:g.241081A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000396373.9:c.1161A>C MANE Select ENSP00000379658.3:p.Thr387=
ENST00000396373.8:c.1161A>C ENSP00000379658.3:p.Thr387=
NM_001987.4:c.1161A>C , LRG_609t1:c.1161A>C NP_001978.1:p.Thr387=
XM_011520607.1:c.1158A>C XP_011518909.1:p.Thr386=
XM_011520608.1:c.1134A>C XP_011518910.1:p.Thr378=
XM_011520609.1:c.897A>C XP_011518911.1:p.Thr299=
XM_011520610.1:c.897A>C XP_011518912.1:p.Thr299=
XM_011520611.1:c.897A>C XP_011518913.1:p.Thr299=
XM_011520612.1:c.540A>C XP_011518914.1:p.Thr180=
XM_011520607.2:c.1158A>C XP_011518909.1:p.Thr386=
XM_011520608.2:c.1134A>C XP_011518910.1:p.Thr378=
XM_011520609.2:c.897A>C XP_011518911.1:p.Thr299=
XM_011520611.2:c.897A>C XP_011518913.1:p.Thr299=
XM_011520612.2:c.540A>C XP_011518914.1:p.Thr180=
XM_017018990.1:c.1026A>C XP_016874479.1:p.Thr342=
XM_017018991.1:c.897A>C XP_016874480.1:p.Thr299=
NM_001987.5:c.1161A>C MANE Select NP_001978.1:p.Thr387=