Canonical Allele Identifier: CA6454316

Gene: ETV6

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11869632C>G , CM000674.2:g.11869632C>G	GRCh38
NC_000012.11:g.12022566C>G , CM000674.1:g.12022566C>G	GRCh37
NC_000012.10:g.11913833C>G	NCBI36
NG_011443.1:g.224779C>G , LRG_609:g.224779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.672C>G MANE Select	ENSP00000379658.3:p.His224Gln
ENST00000396373.8:c.672C>G	ENSP00000379658.3:p.His224Gln
NM_001987.4:c.672C>G , LRG_609t1:c.672C>G	NP_001978.1:p.His224Gln
XM_011520607.1:c.669C>G	XP_011518909.1:p.His223Gln
XM_011520608.1:c.645C>G	XP_011518910.1:p.His215Gln
XM_011520609.1:c.408C>G	XP_011518911.1:p.His136Gln
XM_011520610.1:c.408C>G	XP_011518912.1:p.His136Gln
XM_011520611.1:c.408C>G	XP_011518913.1:p.His136Gln
XM_011520612.1:c.51C>G	XP_011518914.1:p.His17Gln
XM_011520607.2:c.669C>G	XP_011518909.1:p.His223Gln
XM_011520608.2:c.645C>G	XP_011518910.1:p.His215Gln
XM_011520609.2:c.408C>G	XP_011518911.1:p.His136Gln
XM_011520611.2:c.408C>G	XP_011518913.1:p.His136Gln
XM_011520612.2:c.51C>G	XP_011518914.1:p.His17Gln
XM_017018990.1:c.537C>G	XP_016874479.1:p.His179Gln
XM_017018991.1:c.408C>G	XP_016874480.1:p.His136Gln
NM_001987.5:c.672C>G MANE Select	NP_001978.1:p.His224Gln