Canonical Allele Identifier: CA6454424

Gene: ETV6

Linked Data

• dbSNP Id: rs770647062
• ExAC: 12:12038840 T / C
• gnomAD v2: 12-12038840-T-C
• gnomAD v4: 12-11885906-T-C
• MyVariant Identifiers: chr12:g.12038840T>C (hg19) ; chr12:g.11885906T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.11885906T>C , CM000674.2:g.11885906T>C	GRCh38
NC_000012.11:g.12038840T>C , CM000674.1:g.12038840T>C	GRCh37
NC_000012.10:g.11930107T>C	NCBI36
NG_011443.1:g.241053T>C , LRG_609:g.241053T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396373.9:c.1153-20T>C MANE Select	ENSP00000379658.3:n.1153-20T>C
ENST00000396373.8:c.1153-20T>C	ENSP00000379658.3:n.1153-20T>C
NM_001987.4:c.1153-20T>C , LRG_609t1:c.1153-20T>C	NP_001978.1:n.1153-20T>C
XM_011520607.1:c.1150-20T>C	XP_011518909.1:n.1150-20T>C
XM_011520608.1:c.1126-20T>C	XP_011518910.1:n.1126-20T>C
XM_011520609.1:c.889-20T>C	XP_011518911.1:n.889-20T>C
XM_011520610.1:c.889-20T>C	XP_011518912.1:n.889-20T>C
XM_011520611.1:c.889-20T>C	XP_011518913.1:n.889-20T>C
XM_011520612.1:c.532-20T>C	XP_011518914.1:n.532-20T>C
XM_011520607.2:c.1150-20T>C	XP_011518909.1:n.1150-20T>C
XM_011520608.2:c.1126-20T>C	XP_011518910.1:n.1126-20T>C
XM_011520609.2:c.889-20T>C	XP_011518911.1:n.889-20T>C
XM_011520611.2:c.889-20T>C	XP_011518913.1:n.889-20T>C
XM_011520612.2:c.532-20T>C	XP_011518914.1:n.532-20T>C
XM_017018990.1:c.1018-20T>C	XP_016874479.1:n.1018-20T>C
XM_017018991.1:c.889-20T>C	XP_016874480.1:n.889-20T>C
NM_001987.5:c.1153-20T>C MANE Select	NP_001978.1:n.1153-20T>C