Canonical Allele Identifier: CA384044908

Gene: ETV6

Linked Data

• MyVariant Identifiers: chr12:g.12038907C>A (hg19) ; chr12:g.11885973C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885973C>A , CM000674.2:g.11885973C>A	GRCh38
NC_000012.11:g.12038907C>A , CM000674.1:g.12038907C>A	GRCh37
NC_000012.10:g.11930174C>A	NCBI36
NG_011443.1:g.241120C>A , LRG_609:g.241120C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1200C>A MANE Select	ENSP00000379658.3:p.His400Gln
ENST00000266427.3:c.37C>A
ENST00000396373.8:c.1200C>A	ENSP00000379658.3:p.His400Gln
NM_001987.4:c.1200C>A , LRG_609t1:c.1200C>A	NP_001978.1:p.His400Gln
XM_011520607.1:c.1197C>A	XP_011518909.1:p.His399Gln
XM_011520608.1:c.1173C>A	XP_011518910.1:p.His391Gln
XM_011520609.1:c.936C>A	XP_011518911.1:p.His312Gln
XM_011520610.1:c.936C>A	XP_011518912.1:p.His312Gln
XM_011520611.1:c.936C>A	XP_011518913.1:p.His312Gln
XM_011520612.1:c.579C>A	XP_011518914.1:p.His193Gln
XM_011520607.2:c.1197C>A	XP_011518909.1:p.His399Gln
XM_011520608.2:c.1173C>A	XP_011518910.1:p.His391Gln
XM_011520609.2:c.936C>A	XP_011518911.1:p.His312Gln
XM_011520611.2:c.936C>A	XP_011518913.1:p.His312Gln
XM_011520612.2:c.579C>A	XP_011518914.1:p.His193Gln
XM_017018990.1:c.1065C>A	XP_016874479.1:p.His355Gln
XM_017018991.1:c.936C>A	XP_016874480.1:p.His312Gln
NM_001987.5:c.1200C>A MANE Select	NP_001978.1:p.His400Gln