Canonical Allele Identifier: CA10607663

Gene: ADAMTSL4

Linked Data

• ClinVar Variation Id: 292568
• ClinVar RCV Id: RCV000303806 ; RCV001668634 ; RCV003338550
• dbSNP Id: rs1553959
• gnomAD v2: 1-150532792-G-A
• gnomAD v3: 1-150560316-G-A
• gnomAD v4: 1-150560316-G-A
• MyVariant Identifiers: chr1:g.150532792G>A (hg19) ; chr1:g.150560316G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150560316G>A , CM000663.2:g.150560316G>A	GRCh38
NC_000001.10:g.150532792G>A , CM000663.1:g.150532792G>A	GRCh37
NC_000001.9:g.148799416G>A	NCBI36
NG_012172.1:g.15895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.*120G>A MANE Select	ENSP00000271643.4:n.*120G>A
ENST00000674043.1:c.*120G>A	ENSP00000501295.1:n.*120G>A
ENST00000674058.1:c.*120G>A	ENSP00000501255.1:n.*120G>A
ENST00000271643.8:c.*120G>A	ENSP00000271643.4:n.*120G>A
ENST00000369038.6:c.*120G>A	ENSP00000358034.2:n.*120G>A
ENST00000369039.9:c.*120G>A	ENSP00000358035.5:n.*120G>A
ENST00000489159.1:n.1182G>A
ENST00000622417.4:c.*649G>A	ENSP00000477897.1:n.*649G>A
NM_001288607.1:c.*120G>A	NP_001275536.1:n.*120G>A
NM_001288608.1:c.*120G>A	NP_001275537.1:n.*120G>A
NM_019032.5:c.*120G>A	NP_061905.2:n.*120G>A
XM_011509644.1:c.*120G>A	XP_011507946.1:n.*120G>A
XM_011509645.1:c.*120G>A	XP_011507947.1:n.*120G>A
XM_011509646.1:c.*120G>A	XP_011507948.1:n.*120G>A
XM_011509647.1:c.*120G>A	XP_011507949.1:n.*120G>A
XM_011509648.1:c.*120G>A	XP_011507950.1:n.*120G>A
XM_011509651.1:c.*120G>A	XP_011507953.1:n.*120G>A
XM_011509652.1:c.*120G>A	XP_011507954.1:n.*120G>A
XR_921844.1:n.3914G>A
XM_011509644.3:c.*120G>A	XP_011507946.1:n.*120G>A
XM_011509645.3:c.*120G>A	XP_011507947.1:n.*120G>A
XM_011509648.3:c.*120G>A	XP_011507950.1:n.*120G>A
XM_011509651.2:c.*120G>A	XP_011507953.1:n.*120G>A
XM_011509652.2:c.*120G>A	XP_011507954.1:n.*120G>A
XM_017001506.2:c.*120G>A	XP_016856995.1:n.*120G>A
XM_017001507.1:c.*120G>A	XP_016856996.1:n.*120G>A
XR_921844.3:n.3887G>A
NM_001288607.2:c.*120G>A	NP_001275536.1:n.*120G>A
NM_001288608.2:c.*120G>A	NP_001275537.1:n.*120G>A
NM_001378596.1:c.*120G>A	NP_001365525.1:n.*120G>A
NM_019032.6:c.*120G>A MANE Select	NP_061905.2:n.*120G>A