Canonical Allele Identifier: CA478767227

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038928C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885994C>A , CM000674.2:g.11885994C>A	GRCh38
NC_000012.11:g.12038928C>A , CM000674.1:g.12038928C>A	GRCh37
NC_000012.10:g.11930195C>A	NCBI36
NG_011443.1:g.241141C>A , LRG_609:g.241141C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1221C>A MANE Select	ENSP00000379658.3:p.Ile407=
ENST00000266427.3:c.58C>A
ENST00000396373.8:c.1221C>A	ENSP00000379658.3:p.Ile407=
NM_001987.4:c.1221C>A , LRG_609t1:c.1221C>A	NP_001978.1:p.Ile407=
XM_011520607.1:c.1218C>A	XP_011518909.1:p.Ile406=
XM_011520608.1:c.1194C>A	XP_011518910.1:p.Ile398=
XM_011520609.1:c.957C>A	XP_011518911.1:p.Ile319=
XM_011520610.1:c.957C>A	XP_011518912.1:p.Ile319=
XM_011520611.1:c.957C>A	XP_011518913.1:p.Ile319=
XM_011520612.1:c.600C>A	XP_011518914.1:p.Ile200=
XM_011520607.2:c.1218C>A	XP_011518909.1:p.Ile406=
XM_011520608.2:c.1194C>A	XP_011518910.1:p.Ile398=
XM_011520609.2:c.957C>A	XP_011518911.1:p.Ile319=
XM_011520611.2:c.957C>A	XP_011518913.1:p.Ile319=
XM_011520612.2:c.600C>A	XP_011518914.1:p.Ile200=
XM_017018990.1:c.1086C>A	XP_016874479.1:p.Ile362=
XM_017018991.1:c.957C>A	XP_016874480.1:p.Ile319=
NM_001987.5:c.1221C>A MANE Select	NP_001978.1:p.Ile407=