Canonical Allele Identifier: CA6454432

Gene: ETV6

Linked Data

• dbSNP Id: rs761762783
• ExAC: 12:12038967 C / A
• gnomAD v2: 12-12038967-C-A
• gnomAD v4: 12-11886033-C-A
• MyVariant Identifiers: chr12:g.12038967C>A (hg19) ; chr12:g.11886033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886033C>A , CM000674.2:g.11886033C>A	GRCh38
NC_000012.11:g.12038967C>A , CM000674.1:g.12038967C>A	GRCh37
NC_000012.10:g.11930234C>A	NCBI36
NG_011443.1:g.241180C>A , LRG_609:g.241180C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1253+7C>A MANE Select	ENSP00000379658.3:n.1253+7C>A
ENST00000266427.3:c.90+7C>A
ENST00000396373.8:c.1253+7C>A	ENSP00000379658.3:n.1253+7C>A
NM_001987.4:c.1253+7C>A , LRG_609t1:c.1253+7C>A	NP_001978.1:n.1253+7C>A
XM_011520607.1:c.1250+7C>A	XP_011518909.1:n.1250+7C>A
XM_011520608.1:c.1226+7C>A	XP_011518910.1:n.1226+7C>A
XM_011520609.1:c.989+7C>A	XP_011518911.1:n.989+7C>A
XM_011520610.1:c.989+7C>A	XP_011518912.1:n.989+7C>A
XM_011520611.1:c.989+7C>A	XP_011518913.1:n.989+7C>A
XM_011520612.1:c.632+7C>A	XP_011518914.1:n.632+7C>A
XM_011520607.2:c.1250+7C>A	XP_011518909.1:n.1250+7C>A
XM_011520608.2:c.1226+7C>A	XP_011518910.1:n.1226+7C>A
XM_011520609.2:c.989+7C>A	XP_011518911.1:n.989+7C>A
XM_011520611.2:c.989+7C>A	XP_011518913.1:n.989+7C>A
XM_011520612.2:c.632+7C>A	XP_011518914.1:n.632+7C>A
XM_017018990.1:c.1118+7C>A	XP_016874479.1:n.1118+7C>A
XM_017018991.1:c.989+7C>A	XP_016874480.1:n.989+7C>A
NM_001987.5:c.1253+7C>A MANE Select	NP_001978.1:n.1253+7C>A