Canonical Allele Identifier: CA384045003
Gene: ETV6 HGNC NCBI

Linked Data

dbSNP Id: rs1293209607

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