Canonical Allele Identifier: CA420898320

Gene: ADAMTSL4 ADAMTSL4-AS2

Linked Data

• ClinVar Variation Id: 3021193
• ClinVar RCV Id: RCV003872336
• dbSNP Id: rs762016654
• gnomAD v2: 1-150529744-C-T
• gnomAD v4: 1-150557268-C-T
• MyVariant Identifiers: chr1:g.150529744C>T (hg19) ; chr1:g.150557268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150557268C>T , CM000663.2:g.150557268C>T	GRCh38
NC_000001.10:g.150529744C>T , CM000663.1:g.150529744C>T	GRCh37
NC_000001.9:g.148796368C>T	NCBI36
NG_012172.1:g.12847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271643.9:c.1980C>T (ADAMTSL4) MANE Select	ENSP00000271643.4:p.Pro660=
ENST00000674043.1:c.2049C>T (ADAMTSL4)	ENSP00000501295.1:p.Pro683=
ENST00000674058.1:c.1863C>T (ADAMTSL4)	ENSP00000501255.1:p.Pro621=
ENST00000271643.8:c.1980C>T (ADAMTSL4)	ENSP00000271643.4:p.Pro660=
ENST00000369038.6:c.1980C>T (ADAMTSL4)	ENSP00000358034.2:p.Pro660=
ENST00000369039.9:c.2049C>T (ADAMTSL4)	ENSP00000358035.5:p.Pro683=
ENST00000369041.9:c.1980C>T (ADAMTSL4)	ENSP00000358037.5:p.Pro660=
ENST00000622417.4:c.594C>T (ADAMTSL4)	ENSP00000477897.1:p.Pro198=
NM_001288607.1:c.1863C>T (ADAMTSL4)	NP_001275536.1:p.Pro621=
NM_001288608.1:c.2049C>T (ADAMTSL4)	NP_001275537.1:p.Pro683=
NM_019032.5:c.1980C>T (ADAMTSL4)	NP_061905.2:p.Pro660=
NM_025008.4:c.1980C>T (ADAMTSL4)	NP_079284.2:p.Pro660=
XM_011509644.1:c.2148C>T (ADAMTSL4)	XP_011507946.1:p.Pro716=
XM_011509645.1:c.2079C>T (ADAMTSL4)	XP_011507947.1:p.Pro693=
XM_011509646.1:c.2049C>T (ADAMTSL4)	XP_011507948.1:p.Pro683=
XM_011509647.1:c.2049C>T (ADAMTSL4)	XP_011507949.1:p.Pro683=
XM_011509648.1:c.2049C>T (ADAMTSL4)	XP_011507950.1:p.Pro683=
XM_011509649.1:c.2148C>T (ADAMTSL4)	XP_011507951.1:p.Pro716=
XM_011509650.1:c.2148C>T (ADAMTSL4)	XP_011507952.1:p.Pro716=
XM_011509651.1:c.657C>T (ADAMTSL4)	XP_011507953.1:p.Pro219=
XM_011509652.1:c.657C>T (ADAMTSL4)	XP_011507954.1:p.Pro219=
XR_921844.1:n.2333C>T (ADAMTSL4)
XR_922133.1:n.139+425G>A (ADAMTSL4-AS2)
XM_011509644.3:c.2148C>T (ADAMTSL4)	XP_011507946.1:p.Pro716=
XM_011509645.3:c.2079C>T (ADAMTSL4)	XP_011507947.1:p.Pro693=
XM_011509648.3:c.2049C>T (ADAMTSL4)	XP_011507950.1:p.Pro683=
XM_011509649.3:c.2148C>T (ADAMTSL4)	XP_011507951.1:p.Pro716=
XM_011509650.3:c.2148C>T (ADAMTSL4)	XP_011507952.1:p.Pro716=
XM_011509651.2:c.657C>T (ADAMTSL4)	XP_011507953.1:p.Pro219=
XM_011509652.2:c.657C>T (ADAMTSL4)	XP_011507954.1:p.Pro219=
XM_017001506.2:c.2049C>T (ADAMTSL4)	XP_016856995.1:p.Pro683=
XM_017001507.1:c.393C>T (ADAMTSL4)	XP_016856996.1:p.Pro131=
XR_001737242.2:n.2133C>T (ADAMTSL4)
XR_921844.3:n.2306C>T (ADAMTSL4)
NM_001288607.2:c.1863C>T (ADAMTSL4)	NP_001275536.1:p.Pro621=
NM_025008.5:c.1980C>T (ADAMTSL4)	NP_079284.2:p.Pro660=
NM_001288608.2:c.2049C>T (ADAMTSL4)	NP_001275537.1:p.Pro683=
NM_001378596.1:c.1980C>T (ADAMTSL4)	NP_001365525.1:p.Pro660=
NM_019032.6:c.1980C>T (ADAMTSL4) MANE Select	NP_061905.2:p.Pro660=