Canonical Allele Identifier: CA384044935

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038917C>G (hg19) ; chr12:g.11885983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885983C>G , CM000674.2:g.11885983C>G	GRCh38
NC_000012.11:g.12038917C>G , CM000674.1:g.12038917C>G	GRCh37
NC_000012.10:g.11930184C>G	NCBI36
NG_011443.1:g.241130C>G , LRG_609:g.241130C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1210C>G MANE Select	ENSP00000379658.3:p.Leu404Val
ENST00000266427.3:c.47C>G
ENST00000396373.8:c.1210C>G	ENSP00000379658.3:p.Leu404Val
NM_001987.4:c.1210C>G , LRG_609t1:c.1210C>G	NP_001978.1:p.Leu404Val
XM_011520607.1:c.1207C>G	XP_011518909.1:p.Leu403Val
XM_011520608.1:c.1183C>G	XP_011518910.1:p.Leu395Val
XM_011520609.1:c.946C>G	XP_011518911.1:p.Leu316Val
XM_011520610.1:c.946C>G	XP_011518912.1:p.Leu316Val
XM_011520611.1:c.946C>G	XP_011518913.1:p.Leu316Val
XM_011520612.1:c.589C>G	XP_011518914.1:p.Leu197Val
XM_011520607.2:c.1207C>G	XP_011518909.1:p.Leu403Val
XM_011520608.2:c.1183C>G	XP_011518910.1:p.Leu395Val
XM_011520609.2:c.946C>G	XP_011518911.1:p.Leu316Val
XM_011520611.2:c.946C>G	XP_011518913.1:p.Leu316Val
XM_011520612.2:c.589C>G	XP_011518914.1:p.Leu197Val
XM_017018990.1:c.1075C>G	XP_016874479.1:p.Leu359Val
XM_017018991.1:c.946C>G	XP_016874480.1:p.Leu316Val
NM_001987.5:c.1210C>G MANE Select	NP_001978.1:p.Leu404Val