Canonical Allele Identifier: CA277990

Gene: ETV6

Linked Data

• ClinVar Variation Id: 190241
• ClinVar RCV Id: RCV000170464 ; RCV000170465 ; RCV004020020
• dbSNP Id: rs786205155
• MyVariant Identifiers: chr12:g.12037415T>C (hg19) ; chr12:g.11884481T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11884481T>C , CM000674.2:g.11884481T>C	GRCh38
NC_000012.11:g.12037415T>C , CM000674.1:g.12037415T>C	GRCh37
NC_000012.10:g.11928682T>C	NCBI36
NG_011443.1:g.239628T>C , LRG_609:g.239628T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1046T>C MANE Select	ENSP00000379658.3:p.Leu349Pro
ENST00000396373.8:c.1046T>C	ENSP00000379658.3:p.Leu349Pro
NM_001987.4:c.1046T>C , LRG_609t1:c.1046T>C	NP_001978.1:p.Leu349Pro
XM_011520607.1:c.1043T>C	XP_011518909.1:p.Leu348Pro
XM_011520608.1:c.1019T>C	XP_011518910.1:p.Leu340Pro
XM_011520609.1:c.782T>C	XP_011518911.1:p.Leu261Pro
XM_011520610.1:c.782T>C	XP_011518912.1:p.Leu261Pro
XM_011520611.1:c.782T>C	XP_011518913.1:p.Leu261Pro
XM_011520612.1:c.425T>C	XP_011518914.1:p.Leu142Pro
XM_011520607.2:c.1043T>C	XP_011518909.1:p.Leu348Pro
XM_011520608.2:c.1019T>C	XP_011518910.1:p.Leu340Pro
XM_011520609.2:c.782T>C	XP_011518911.1:p.Leu261Pro
XM_011520611.2:c.782T>C	XP_011518913.1:p.Leu261Pro
XM_011520612.2:c.425T>C	XP_011518914.1:p.Leu142Pro
XM_017018990.1:c.911T>C	XP_016874479.1:p.Leu304Pro
XM_017018991.1:c.782T>C	XP_016874480.1:p.Leu261Pro
NM_001987.5:c.1046T>C MANE Select	NP_001978.1:p.Leu349Pro