Canonical Allele Identifier: CA384045026

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038956T>C (hg19) ; chr12:g.11886022T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886022T>C , CM000674.2:g.11886022T>C	GRCh38
NC_000012.11:g.12038956T>C , CM000674.1:g.12038956T>C	GRCh37
NC_000012.10:g.11930223T>C	NCBI36
NG_011443.1:g.241169T>C , LRG_609:g.241169T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1249T>C MANE Select	ENSP00000379658.3:p.Phe417Leu
ENST00000266427.3:c.86T>C
ENST00000396373.8:c.1249T>C	ENSP00000379658.3:p.Phe417Leu
NM_001987.4:c.1249T>C , LRG_609t1:c.1249T>C	NP_001978.1:p.Phe417Leu
XM_011520607.1:c.1246T>C	XP_011518909.1:p.Phe416Leu
XM_011520608.1:c.1222T>C	XP_011518910.1:p.Phe408Leu
XM_011520609.1:c.985T>C	XP_011518911.1:p.Phe329Leu
XM_011520610.1:c.985T>C	XP_011518912.1:p.Phe329Leu
XM_011520611.1:c.985T>C	XP_011518913.1:p.Phe329Leu
XM_011520612.1:c.628T>C	XP_011518914.1:p.Phe210Leu
XM_011520607.2:c.1246T>C	XP_011518909.1:p.Phe416Leu
XM_011520608.2:c.1222T>C	XP_011518910.1:p.Phe408Leu
XM_011520609.2:c.985T>C	XP_011518911.1:p.Phe329Leu
XM_011520611.2:c.985T>C	XP_011518913.1:p.Phe329Leu
XM_011520612.2:c.628T>C	XP_011518914.1:p.Phe210Leu
XM_017018990.1:c.1114T>C	XP_016874479.1:p.Phe372Leu
XM_017018991.1:c.985T>C	XP_016874480.1:p.Phe329Leu
NM_001987.5:c.1249T>C MANE Select	NP_001978.1:p.Phe417Leu