Canonical Allele Identifier: CA6454224

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11853447C>T , CM000674.2:g.11853447C>T	GRCh38
NC_000012.11:g.12006381C>T , CM000674.1:g.12006381C>T	GRCh37
NC_000012.10:g.11897648C>T	NCBI36
NG_011443.1:g.208594C>T , LRG_609:g.208594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.349C>T MANE Select	ENSP00000379658.3:p.Leu117Phe
ENST00000396373.8:c.349C>T	ENSP00000379658.3:p.Leu117Phe
NM_001987.4:c.349C>T , LRG_609t1:c.349C>T	NP_001978.1:p.Leu117Phe
XM_011520607.1:c.346C>T	XP_011518909.1:p.Leu116Phe
XM_011520608.1:c.322C>T	XP_011518910.1:p.Leu108Phe
XM_011520609.1:c.85C>T	XP_011518911.1:p.Leu29Phe
XM_011520610.1:c.85C>T	XP_011518912.1:p.Leu29Phe
XM_011520611.1:c.85C>T	XP_011518913.1:p.Leu29Phe
XM_011520612.1:c.-273C>T	XP_011518914.1:n.-273C>T
XM_011520607.2:c.346C>T	XP_011518909.1:p.Leu116Phe
XM_011520608.2:c.322C>T	XP_011518910.1:p.Leu108Phe
XM_011520609.2:c.85C>T	XP_011518911.1:p.Leu29Phe
XM_011520611.2:c.85C>T	XP_011518913.1:p.Leu29Phe
XM_011520612.2:c.-273C>T	XP_011518914.1:n.-273C>T
XM_017018990.1:c.328+14143C>T	XP_016874479.1:n.328+14143C>T
XM_017018991.1:c.85C>T	XP_016874480.1:p.Leu29Phe
NM_001987.5:c.349C>T MANE Select	NP_001978.1:p.Leu117Phe