Canonical Allele Identifier: CA175028

Gene: ETV6

Linked Data

• ClinVar Variation Id: 162221
• ClinVar RCV Id: RCV000149803 ; RCV000157610 ; RCV003162607 ; RCV003372620 ; RCV003415987 ; RCV004526621
• dbSNP Id: rs724159946
• gnomAD v3: 12-11884541-G-A
• gnomAD v4: 12-11884541-G-A
• COSMIC: COSM4384670
• MyVariant Identifiers: chr12:g.12037475G>A (hg19) ; chr12:g.11884541G>A (hg38)
• PubMed: PMID:25581430
• CIViC: CA175028

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11884541G>A , CM000674.2:g.11884541G>A	GRCh38
NC_000012.11:g.12037475G>A , CM000674.1:g.12037475G>A	GRCh37
NC_000012.10:g.11928742G>A	NCBI36
NG_011443.1:g.239688G>A , LRG_609:g.239688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1106G>A MANE Select	ENSP00000379658.3:p.Arg369Gln
ENST00000396373.8:c.1106G>A	ENSP00000379658.3:p.Arg369Gln
NM_001987.4:c.1106G>A , LRG_609t1:c.1106G>A	NP_001978.1:p.Arg369Gln
XM_011520607.1:c.1103G>A	XP_011518909.1:p.Arg368Gln
XM_011520608.1:c.1079G>A	XP_011518910.1:p.Arg360Gln
XM_011520609.1:c.842G>A	XP_011518911.1:p.Arg281Gln
XM_011520610.1:c.842G>A	XP_011518912.1:p.Arg281Gln
XM_011520611.1:c.842G>A	XP_011518913.1:p.Arg281Gln
XM_011520612.1:c.485G>A	XP_011518914.1:p.Arg162Gln
XM_011520607.2:c.1103G>A	XP_011518909.1:p.Arg368Gln
XM_011520608.2:c.1079G>A	XP_011518910.1:p.Arg360Gln
XM_011520609.2:c.842G>A	XP_011518911.1:p.Arg281Gln
XM_011520611.2:c.842G>A	XP_011518913.1:p.Arg281Gln
XM_011520612.2:c.485G>A	XP_011518914.1:p.Arg162Gln
XM_017018990.1:c.971G>A	XP_016874479.1:p.Arg324Gln
XM_017018991.1:c.842G>A	XP_016874480.1:p.Arg281Gln
NM_001987.5:c.1106G>A MANE Select	NP_001978.1:p.Arg369Gln