Canonical Allele Identifier: CA280127
Gene: ETV6 HGNC NCBI

Linked Data

ClinVar Variation Id: 8984
ClinVar RCV Id: RCV000009547
dbSNP Id: rs121434637

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.11839202G>T , CM000674.2:g.11839202G>T GRCh38
NC_000012.11:g.11992136G>T , CM000674.1:g.11992136G>T GRCh37
NC_000012.10:g.11883403G>T NCBI36
NG_011443.1:g.194349G>T , LRG_609:g.194349G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000396373.9:c.226G>T MANE Select ENSP00000379658.3:p.Glu76Ter
ENST00000396373.8:c.226G>T ENSP00000379658.3:p.Glu76Ter
ENST00000545027.1:c.142G>T ENSP00000441463.1:p.Glu48Ter
NM_001987.4:c.226G>T , LRG_609t1:c.226G>T NP_001978.1:p.Glu76Ter
XM_011520607.1:c.223G>T XP_011518909.1:p.Glu75Ter
XM_011520608.1:c.199G>T XP_011518910.1:p.Glu67Ter
XM_011520609.1:c.-39G>T XP_011518911.1:n.-39G>T
XM_011520610.1:c.-39G>T XP_011518912.1:n.-39G>T
XM_011520611.1:c.-39G>T XP_011518913.1:n.-39G>T
XM_011520607.2:c.223G>T XP_011518909.1:p.Glu75Ter
XM_011520608.2:c.199G>T XP_011518910.1:p.Glu67Ter
XM_011520609.2:c.-39G>T XP_011518911.1:n.-39G>T
XM_011520611.2:c.-39G>T XP_011518913.1:n.-39G>T
XM_017018990.1:c.226G>T XP_016874479.1:p.Glu76Ter
XM_017018991.1:c.-39G>T XP_016874480.1:n.-39G>T
NM_001987.5:c.226G>T MANE Select NP_001978.1:p.Glu76Ter