Canonical Allele Identifier: CA384045003

Gene: ETV6

Linked Data

• dbSNP Id: rs1293209607
• MyVariant Identifiers: chr12:g.12038946A>C (hg19) ; chr12:g.11886012A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886012A>C , CM000674.2:g.11886012A>C	GRCh38
NC_000012.11:g.12038946A>C , CM000674.1:g.12038946A>C	GRCh37
NC_000012.10:g.11930213A>C	NCBI36
NG_011443.1:g.241159A>C , LRG_609:g.241159A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1239A>C MANE Select	ENSP00000379658.3:p.Gln413His
ENST00000266427.3:c.76A>C
ENST00000396373.8:c.1239A>C	ENSP00000379658.3:p.Gln413His
NM_001987.4:c.1239A>C , LRG_609t1:c.1239A>C	NP_001978.1:p.Gln413His
XM_011520607.1:c.1236A>C	XP_011518909.1:p.Gln412His
XM_011520608.1:c.1212A>C	XP_011518910.1:p.Gln404His
XM_011520609.1:c.975A>C	XP_011518911.1:p.Gln325His
XM_011520610.1:c.975A>C	XP_011518912.1:p.Gln325His
XM_011520611.1:c.975A>C	XP_011518913.1:p.Gln325His
XM_011520612.1:c.618A>C	XP_011518914.1:p.Gln206His
XM_011520607.2:c.1236A>C	XP_011518909.1:p.Gln412His
XM_011520608.2:c.1212A>C	XP_011518910.1:p.Gln404His
XM_011520609.2:c.975A>C	XP_011518911.1:p.Gln325His
XM_011520611.2:c.975A>C	XP_011518913.1:p.Gln325His
XM_011520612.2:c.618A>C	XP_011518914.1:p.Gln206His
XM_017018990.1:c.1104A>C	XP_016874479.1:p.Gln368His
XM_017018991.1:c.975A>C	XP_016874480.1:p.Gln325His
NM_001987.5:c.1239A>C MANE Select	NP_001978.1:p.Gln413His