Canonical Allele Identifier: CA11512464

Gene: ZBTB38

Linked Data

• dbSNP Id: rs6763931
• gnomAD v2: 3-141102833-G-A
• gnomAD v3: 3-141383991-G-A
• gnomAD v4: 3-141383991-G-A
• MyVariant Identifiers: chr3:g.141102833G>A (hg19) ; chr3:g.141383991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.141383991G>A , CM000665.2:g.141383991G>A	GRCh38
NC_000003.11:g.141102833G>A , CM000665.1:g.141102833G>A	GRCh37
NC_000003.10:g.142585523G>A	NCBI36
NG_021426.1:g.64779G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321464.7:c.-172+2504G>A MANE Select	ENSP00000372635.5:n.-172+2504G>A
ENST00000637706.1:n.549+282G>A
ENST00000507657.1:n.453+2504G>A
ENST00000509842.5:c.-417+2504G>A	ENSP00000426931.1:n.-417+2504G>A
ENST00000512276.5:n.619+2504G>A
ENST00000513619.5:n.639+2504G>A
NM_001080412.2:c.-417+2504G>A	NP_001073881.2:n.-417+2504G>A
XM_005247257.2:c.-1056G>A	XP_005247314.1:n.-1056G>A
XM_017006050.2:c.-1374G>A	XP_016861539.1:n.-1374G>A
XM_024453431.1:c.-172+2504G>A	XP_024309199.1:n.-172+2504G>A
XM_024453432.1:c.-1301G>A	XP_024309200.1:n.-1301G>A
XM_024453433.1:c.-417+2504G>A	XP_024309201.1:n.-417+2504G>A
NM_001080412.3:c.-417+2504G>A	NP_001073881.2:n.-417+2504G>A
NM_001376112.1:c.-172+2504G>A	NP_001363041.1:n.-172+2504G>A
NM_001376113.1:c.-172+2504G>A MANE Select	NP_001363042.1:n.-172+2504G>A
NM_001376114.1:c.-417+2504G>A	NP_001363043.1:n.-417+2504G>A
NM_001376115.1:c.-171-2881G>A	NP_001363044.1:n.-171-2881G>A
NM_001376116.1:c.-204+2504G>A	NP_001363045.1:n.-204+2504G>A
NM_001376117.1:c.-270+2504G>A	NP_001363046.1:n.-270+2504G>A
NM_001376118.1:c.-295+2504G>A	NP_001363047.1:n.-295+2504G>A
NM_001376119.1:c.-106+14045G>A	NP_001363048.1:n.-106+14045G>A
NM_001376120.1:c.-67+2504G>A	NP_001363049.1:n.-67+2504G>A
NM_001376121.1:c.-573+2504G>A	NP_001363050.1:n.-573+2504G>A
NM_001376122.1:c.-373+2504G>A	NP_001363051.1:n.-373+2504G>A
NM_001376123.1:c.-540+2504G>A	NP_001363052.1:n.-540+2504G>A
NM_001376124.1:c.-515+2504G>A	NP_001363053.1:n.-515+2504G>A
NM_001387941.1:c.-270+2504G>A	NP_001374870.1:n.-270+2504G>A
NM_001387945.1:c.-446+2504G>A	NP_001374874.1:n.-446+2504G>A
NM_001387947.1:c.-987+2504G>A	NP_001374876.1:n.-987+2504G>A
NM_001387948.1:c.-443+2504G>A	NP_001374877.1:n.-443+2504G>A
NM_001387950.1:c.-360+2504G>A	NP_001374879.1:n.-360+2504G>A
NM_001387952.1:c.-165+2504G>A	NP_001374881.1:n.-165+2504G>A
NM_001387953.1:c.-172+282G>A	NP_001374882.1:n.-172+282G>A