Canonical Allele Identifier: CA2617675085

Gene: ETV6

Linked Data

• gnomAD v4: 12-11886048-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11886048T>C , CM000674.2:g.11886048T>C	GRCh38
NC_000012.11:g.12038982T>C , CM000674.1:g.12038982T>C	GRCh37
NC_000012.10:g.11930249T>C	NCBI36
NG_011443.1:g.241195T>C , LRG_609:g.241195T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1253+22T>C MANE Select	ENSP00000379658.3:n.1253+22T>C
ENST00000266427.3:c.90+22T>C
ENST00000396373.8:c.1253+22T>C	ENSP00000379658.3:n.1253+22T>C
NM_001987.4:c.1253+22T>C , LRG_609t1:c.1253+22T>C	NP_001978.1:n.1253+22T>C
XM_011520607.1:c.1250+22T>C	XP_011518909.1:n.1250+22T>C
XM_011520608.1:c.1226+22T>C	XP_011518910.1:n.1226+22T>C
XM_011520609.1:c.989+22T>C	XP_011518911.1:n.989+22T>C
XM_011520610.1:c.989+22T>C	XP_011518912.1:n.989+22T>C
XM_011520611.1:c.989+22T>C	XP_011518913.1:n.989+22T>C
XM_011520612.1:c.632+22T>C	XP_011518914.1:n.632+22T>C
XM_011520607.2:c.1250+22T>C	XP_011518909.1:n.1250+22T>C
XM_011520608.2:c.1226+22T>C	XP_011518910.1:n.1226+22T>C
XM_011520609.2:c.989+22T>C	XP_011518911.1:n.989+22T>C
XM_011520611.2:c.989+22T>C	XP_011518913.1:n.989+22T>C
XM_011520612.2:c.632+22T>C	XP_011518914.1:n.632+22T>C
XM_017018990.1:c.1118+22T>C	XP_016874479.1:n.1118+22T>C
XM_017018991.1:c.989+22T>C	XP_016874480.1:n.989+22T>C
NM_001987.5:c.1253+22T>C MANE Select	NP_001978.1:n.1253+22T>C