Canonical Allele Identifier: CA478767224

Gene: ETV6

Linked Data

• gnomAD v4: 12-11885988-C-T
• MyVariant Identifiers: chr12:g.12038922C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885988C>T , CM000674.2:g.11885988C>T	GRCh38
NC_000012.11:g.12038922C>T , CM000674.1:g.12038922C>T	GRCh37
NC_000012.10:g.11930189C>T	NCBI36
NG_011443.1:g.241135C>T , LRG_609:g.241135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1215C>T MANE Select	ENSP00000379658.3:p.Asn405=
ENST00000266427.3:c.52C>T
ENST00000396373.8:c.1215C>T	ENSP00000379658.3:p.Asn405=
NM_001987.4:c.1215C>T , LRG_609t1:c.1215C>T	NP_001978.1:p.Asn405=
XM_011520607.1:c.1212C>T	XP_011518909.1:p.Asn404=
XM_011520608.1:c.1188C>T	XP_011518910.1:p.Asn396=
XM_011520609.1:c.951C>T	XP_011518911.1:p.Asn317=
XM_011520610.1:c.951C>T	XP_011518912.1:p.Asn317=
XM_011520611.1:c.951C>T	XP_011518913.1:p.Asn317=
XM_011520612.1:c.594C>T	XP_011518914.1:p.Asn198=
XM_011520607.2:c.1212C>T	XP_011518909.1:p.Asn404=
XM_011520608.2:c.1188C>T	XP_011518910.1:p.Asn396=
XM_011520609.2:c.951C>T	XP_011518911.1:p.Asn317=
XM_011520611.2:c.951C>T	XP_011518913.1:p.Asn317=
XM_011520612.2:c.594C>T	XP_011518914.1:p.Asn198=
XM_017018990.1:c.1080C>T	XP_016874479.1:p.Asn360=
XM_017018991.1:c.951C>T	XP_016874480.1:p.Asn317=
NM_001987.5:c.1215C>T MANE Select	NP_001978.1:p.Asn405=