Canonical Allele Identifier: CA384045032

Gene: ETV6

Linked Data

• ClinVar Variation Id: 626985
• ClinVar RCV Id: RCV000851676
• dbSNP Id: rs1591750603
• MyVariant Identifiers: chr12:g.12038958C>G (hg19) ; chr12:g.11886024C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886024C>G , CM000674.2:g.11886024C>G	GRCh38
NC_000012.11:g.12038958C>G , CM000674.1:g.12038958C>G	GRCh37
NC_000012.10:g.11930225C>G	NCBI36
NG_011443.1:g.241171C>G , LRG_609:g.241171C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1251C>G MANE Select	ENSP00000379658.3:p.Phe417Leu
ENST00000266427.3:c.88C>G
ENST00000396373.8:c.1251C>G	ENSP00000379658.3:p.Phe417Leu
NM_001987.4:c.1251C>G , LRG_609t1:c.1251C>G	NP_001978.1:p.Phe417Leu
XM_011520607.1:c.1248C>G	XP_011518909.1:p.Phe416Leu
XM_011520608.1:c.1224C>G	XP_011518910.1:p.Phe408Leu
XM_011520609.1:c.987C>G	XP_011518911.1:p.Phe329Leu
XM_011520610.1:c.987C>G	XP_011518912.1:p.Phe329Leu
XM_011520611.1:c.987C>G	XP_011518913.1:p.Phe329Leu
XM_011520612.1:c.630C>G	XP_011518914.1:p.Phe210Leu
XM_011520607.2:c.1248C>G	XP_011518909.1:p.Phe416Leu
XM_011520608.2:c.1224C>G	XP_011518910.1:p.Phe408Leu
XM_011520609.2:c.987C>G	XP_011518911.1:p.Phe329Leu
XM_011520611.2:c.987C>G	XP_011518913.1:p.Phe329Leu
XM_011520612.2:c.630C>G	XP_011518914.1:p.Phe210Leu
XM_017018990.1:c.1116C>G	XP_016874479.1:p.Phe372Leu
XM_017018991.1:c.987C>G	XP_016874480.1:p.Phe329Leu
NM_001987.5:c.1251C>G MANE Select	NP_001978.1:p.Phe417Leu