Canonical Allele Identifier: CA384044960

Gene: ETV6

Linked Data

• dbSNP Id: rs2136602410
• gnomAD v4: 12-11885994-C-G
• MyVariant Identifiers: chr12:g.12038928C>G (hg19) ; chr12:g.11885994C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885994C>G , CM000674.2:g.11885994C>G	GRCh38
NC_000012.11:g.12038928C>G , CM000674.1:g.12038928C>G	GRCh37
NC_000012.10:g.11930195C>G	NCBI36
NG_011443.1:g.241141C>G , LRG_609:g.241141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1221C>G MANE Select	ENSP00000379658.3:p.Ile407Met
ENST00000266427.3:c.58C>G
ENST00000396373.8:c.1221C>G	ENSP00000379658.3:p.Ile407Met
NM_001987.4:c.1221C>G , LRG_609t1:c.1221C>G	NP_001978.1:p.Ile407Met
XM_011520607.1:c.1218C>G	XP_011518909.1:p.Ile406Met
XM_011520608.1:c.1194C>G	XP_011518910.1:p.Ile398Met
XM_011520609.1:c.957C>G	XP_011518911.1:p.Ile319Met
XM_011520610.1:c.957C>G	XP_011518912.1:p.Ile319Met
XM_011520611.1:c.957C>G	XP_011518913.1:p.Ile319Met
XM_011520612.1:c.600C>G	XP_011518914.1:p.Ile200Met
XM_011520607.2:c.1218C>G	XP_011518909.1:p.Ile406Met
XM_011520608.2:c.1194C>G	XP_011518910.1:p.Ile398Met
XM_011520609.2:c.957C>G	XP_011518911.1:p.Ile319Met
XM_011520611.2:c.957C>G	XP_011518913.1:p.Ile319Met
XM_011520612.2:c.600C>G	XP_011518914.1:p.Ile200Met
XM_017018990.1:c.1086C>G	XP_016874479.1:p.Ile362Met
XM_017018991.1:c.957C>G	XP_016874480.1:p.Ile319Met
NM_001987.5:c.1221C>G MANE Select	NP_001978.1:p.Ile407Met