Canonical Allele Identifier: CA384044865

Gene: ETV6

Linked Data

• gnomAD v4: 12-11885953-A-G
• MyVariant Identifiers: chr12:g.12038887A>G (hg19) ; chr12:g.11885953A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885953A>G , CM000674.2:g.11885953A>G	GRCh38
NC_000012.11:g.12038887A>G , CM000674.1:g.12038887A>G	GRCh37
NC_000012.10:g.11930154A>G	NCBI36
NG_011443.1:g.241100A>G , LRG_609:g.241100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1180A>G MANE Select	ENSP00000379658.3:p.Met394Val
ENST00000266427.3:c.17A>G
ENST00000396373.8:c.1180A>G	ENSP00000379658.3:p.Met394Val
NM_001987.4:c.1180A>G , LRG_609t1:c.1180A>G	NP_001978.1:p.Met394Val
XM_011520607.1:c.1177A>G	XP_011518909.1:p.Met393Val
XM_011520608.1:c.1153A>G	XP_011518910.1:p.Met385Val
XM_011520609.1:c.916A>G	XP_011518911.1:p.Met306Val
XM_011520610.1:c.916A>G	XP_011518912.1:p.Met306Val
XM_011520611.1:c.916A>G	XP_011518913.1:p.Met306Val
XM_011520612.1:c.559A>G	XP_011518914.1:p.Met187Val
XM_011520607.2:c.1177A>G	XP_011518909.1:p.Met393Val
XM_011520608.2:c.1153A>G	XP_011518910.1:p.Met385Val
XM_011520609.2:c.916A>G	XP_011518911.1:p.Met306Val
XM_011520611.2:c.916A>G	XP_011518913.1:p.Met306Val
XM_011520612.2:c.559A>G	XP_011518914.1:p.Met187Val
XM_017018990.1:c.1045A>G	XP_016874479.1:p.Met349Val
XM_017018991.1:c.916A>G	XP_016874480.1:p.Met306Val
NM_001987.5:c.1180A>G MANE Select	NP_001978.1:p.Met394Val