Canonical Allele Identifier: CA1078483

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 3005423
• ClinVar RCV Id: RCV003868550
• dbSNP Id: rs374312050
• ExAC: 1:150529762 G / T
• gnomAD v2: 1-150529762-G-T
• gnomAD v4: 1-150557286-G-T
• COSMIC: COSM3356435 ; COSM3356436
• MyVariant Identifiers: chr1:g.150529762G>T (hg19) ; chr1:g.150557286G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557286G>T , CM000663.2:g.150557286G>T	GRCh38
NC_000001.10:g.150529762G>T , CM000663.1:g.150529762G>T	GRCh37
NC_000001.9:g.148796386G>T	NCBI36
NG_012172.1:g.12865G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1998G>T (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Ala666=
ENST00000674043.1:c.2067G>T (ADAMTSL4)	ENSP00000501295.1:p.Ala689=
ENST00000674058.1:c.1881G>T (ADAMTSL4)	ENSP00000501255.1:p.Ala627=
ENST00000271643.8:c.1998G>T (ADAMTSL4)	ENSP00000271643.4:p.Ala666=
ENST00000369038.6:c.1998G>T (ADAMTSL4)	ENSP00000358034.2:p.Ala666=
ENST00000369039.9:c.2067G>T (ADAMTSL4)	ENSP00000358035.5:p.Ala689=
ENST00000369041.9:c.1998G>T (ADAMTSL4)	ENSP00000358037.5:p.Ala666=
ENST00000622417.4:c.612G>T (ADAMTSL4)	ENSP00000477897.1:p.Ala204=
NM_001288607.1:c.1881G>T (ADAMTSL4)	NP_001275536.1:p.Ala627=
NM_001288608.1:c.2067G>T (ADAMTSL4)	NP_001275537.1:p.Ala689=
NM_019032.5:c.1998G>T (ADAMTSL4)	NP_061905.2:p.Ala666=
NM_025008.4:c.1998G>T (ADAMTSL4)	NP_079284.2:p.Ala666=
XM_011509644.1:c.2166G>T (ADAMTSL4)	XP_011507946.1:p.Ala722=
XM_011509645.1:c.2097G>T (ADAMTSL4)	XP_011507947.1:p.Ala699=
XM_011509646.1:c.2067G>T (ADAMTSL4)	XP_011507948.1:p.Ala689=
XM_011509647.1:c.2067G>T (ADAMTSL4)	XP_011507949.1:p.Ala689=
XM_011509648.1:c.2067G>T (ADAMTSL4)	XP_011507950.1:p.Ala689=
XM_011509649.1:c.2166G>T (ADAMTSL4)	XP_011507951.1:p.Ala722=
XM_011509650.1:c.2166G>T (ADAMTSL4)	XP_011507952.1:p.Ala722=
XM_011509651.1:c.675G>T (ADAMTSL4)	XP_011507953.1:p.Ala225=
XM_011509652.1:c.675G>T (ADAMTSL4)	XP_011507954.1:p.Ala225=
XR_921844.1:n.2351G>T (ADAMTSL4)
XR_922133.1:n.139+407C>A (ADAMTSL4-AS2)
XM_011509644.3:c.2166G>T (ADAMTSL4)	XP_011507946.1:p.Ala722=
XM_011509645.3:c.2097G>T (ADAMTSL4)	XP_011507947.1:p.Ala699=
XM_011509648.3:c.2067G>T (ADAMTSL4)	XP_011507950.1:p.Ala689=
XM_011509649.3:c.2166G>T (ADAMTSL4)	XP_011507951.1:p.Ala722=
XM_011509650.3:c.2166G>T (ADAMTSL4)	XP_011507952.1:p.Ala722=
XM_011509651.2:c.675G>T (ADAMTSL4)	XP_011507953.1:p.Ala225=
XM_011509652.2:c.675G>T (ADAMTSL4)	XP_011507954.1:p.Ala225=
XM_017001506.2:c.2067G>T (ADAMTSL4)	XP_016856995.1:p.Ala689=
XM_017001507.1:c.411G>T (ADAMTSL4)	XP_016856996.1:p.Ala137=
XR_001737242.2:n.2151G>T (ADAMTSL4)
XR_921844.3:n.2324G>T (ADAMTSL4)
NM_001288607.2:c.1881G>T (ADAMTSL4)	NP_001275536.1:p.Ala627=
NM_025008.5:c.1998G>T (ADAMTSL4)	NP_079284.2:p.Ala666=
NM_001288608.2:c.2067G>T (ADAMTSL4)	NP_001275537.1:p.Ala689=
NM_001378596.1:c.1998G>T (ADAMTSL4)	NP_001365525.1:p.Ala666=
NM_019032.6:c.1998G>T (ADAMTSL4) MANE Select	NP_061905.2:p.Ala666=