Canonical Allele Identifier: CA6454431

Gene: ETV6

Linked Data

• dbSNP Id: rs774595792
• ExAC: 12:12038929 A / C
• gnomAD v2: 12-12038929-A-C
• gnomAD v3: 12-11885995-A-C
• gnomAD v4: 12-11885995-A-C
• MyVariant Identifiers: chr12:g.12038929A>C (hg19) ; chr12:g.11885995A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885995A>C , CM000674.2:g.11885995A>C	GRCh38
NC_000012.11:g.12038929A>C , CM000674.1:g.12038929A>C	GRCh37
NC_000012.10:g.11930196A>C	NCBI36
NG_011443.1:g.241142A>C , LRG_609:g.241142A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1222A>C MANE Select	ENSP00000379658.3:p.Arg408=
ENST00000266427.3:c.59A>C
ENST00000396373.8:c.1222A>C	ENSP00000379658.3:p.Arg408=
NM_001987.4:c.1222A>C , LRG_609t1:c.1222A>C	NP_001978.1:p.Arg408=
XM_011520607.1:c.1219A>C	XP_011518909.1:p.Arg407=
XM_011520608.1:c.1195A>C	XP_011518910.1:p.Arg399=
XM_011520609.1:c.958A>C	XP_011518911.1:p.Arg320=
XM_011520610.1:c.958A>C	XP_011518912.1:p.Arg320=
XM_011520611.1:c.958A>C	XP_011518913.1:p.Arg320=
XM_011520612.1:c.601A>C	XP_011518914.1:p.Arg201=
XM_011520607.2:c.1219A>C	XP_011518909.1:p.Arg407=
XM_011520608.2:c.1195A>C	XP_011518910.1:p.Arg399=
XM_011520609.2:c.958A>C	XP_011518911.1:p.Arg320=
XM_011520611.2:c.958A>C	XP_011518913.1:p.Arg320=
XM_011520612.2:c.601A>C	XP_011518914.1:p.Arg201=
XM_017018990.1:c.1087A>C	XP_016874479.1:p.Arg363=
XM_017018991.1:c.958A>C	XP_016874480.1:p.Arg320=
NM_001987.5:c.1222A>C MANE Select	NP_001978.1:p.Arg408=