Canonical Allele Identifier: CA384045023

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038955G>C (hg19) ; chr12:g.11886021G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886021G>C , CM000674.2:g.11886021G>C	GRCh38
NC_000012.11:g.12038955G>C , CM000674.1:g.12038955G>C	GRCh37
NC_000012.10:g.11930222G>C	NCBI36
NG_011443.1:g.241168G>C , LRG_609:g.241168G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1248G>C MANE Select	ENSP00000379658.3:p.Leu416Phe
ENST00000266427.3:c.85G>C
ENST00000396373.8:c.1248G>C	ENSP00000379658.3:p.Leu416Phe
NM_001987.4:c.1248G>C , LRG_609t1:c.1248G>C	NP_001978.1:p.Leu416Phe
XM_011520607.1:c.1245G>C	XP_011518909.1:p.Leu415Phe
XM_011520608.1:c.1221G>C	XP_011518910.1:p.Leu407Phe
XM_011520609.1:c.984G>C	XP_011518911.1:p.Leu328Phe
XM_011520610.1:c.984G>C	XP_011518912.1:p.Leu328Phe
XM_011520611.1:c.984G>C	XP_011518913.1:p.Leu328Phe
XM_011520612.1:c.627G>C	XP_011518914.1:p.Leu209Phe
XM_011520607.2:c.1245G>C	XP_011518909.1:p.Leu415Phe
XM_011520608.2:c.1221G>C	XP_011518910.1:p.Leu407Phe
XM_011520609.2:c.984G>C	XP_011518911.1:p.Leu328Phe
XM_011520611.2:c.984G>C	XP_011518913.1:p.Leu328Phe
XM_011520612.2:c.627G>C	XP_011518914.1:p.Leu209Phe
XM_017018990.1:c.1113G>C	XP_016874479.1:p.Leu371Phe
XM_017018991.1:c.984G>C	XP_016874480.1:p.Leu328Phe
NM_001987.5:c.1248G>C MANE Select	NP_001978.1:p.Leu416Phe