Canonical Allele Identifier: CA4696082

Gene: EXTL3

Linked Data

• ClinVar Variation Id: 1058638
• ClinVar RCV Id: RCV001367799 ; RCV004037022
• dbSNP Id: rs762247666
• ExAC: 8:28574447 G / A
• gnomAD v2: 8-28574447-G-A
• gnomAD v3: 8-28716930-G-A
• gnomAD v4: 8-28716930-G-A
• COSMIC: COSM3648039
• MyVariant Identifiers: chr8:g.28574447G>A (hg19) ; chr8:g.28716930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.28716930G>A , CM000670.2:g.28716930G>A	GRCh38
NC_000008.10:g.28574447G>A , CM000670.1:g.28574447G>A	GRCh37
NC_000008.9:g.28630366G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696177.1:c.871G>A	ENSP00000512467.1:p.Val291Ile
ENST00000696178.1:c.871G>A	ENSP00000512468.1:p.Val291Ile
ENST00000696179.1:c.871G>A	ENSP00000512469.1:p.Val291Ile
ENST00000696180.1:c.871G>A	ENSP00000512470.1:p.Val291Ile
ENST00000696181.1:c.871G>A	ENSP00000512471.1:p.Val291Ile
ENST00000696182.1:c.-114-14293G>A	ENSP00000512472.1:n.-114-14293G>A
ENST00000696184.1:c.871G>A	ENSP00000512473.1:p.Val291Ile
ENST00000696185.1:n.1504G>A
ENST00000696186.1:c.871G>A	ENSP00000512474.1:p.Val291Ile
ENST00000220562.9:c.871G>A MANE Select	ENSP00000220562.4:p.Val291Ile
ENST00000220562.8:c.871G>A	ENSP00000220562.4:p.Val291Ile
ENST00000519886.5:n.631+864G>A
ENST00000521532.5:c.42+6427G>A	ENSP00000431013.1:n.42+6427G>A
ENST00000522698.1:c.213+33G>A
ENST00000523149.5:c.28-309G>A	ENSP00000428691.1:n.28-309G>A
NM_001440.3:c.871G>A	NP_001431.1:p.Val291Ile
NR_073468.1:n.188-14293G>A
NR_073469.1:n.763+864G>A
XM_011544440.1:c.871G>A	XP_011542742.1:p.Val291Ile
XM_011544440.3:c.871G>A	XP_011542742.1:p.Val291Ile
XM_024447094.1:c.871G>A	XP_024302862.1:p.Val291Ile
XM_024447095.1:c.871G>A	XP_024302863.1:p.Val291Ile
XM_024447096.1:c.871G>A	XP_024302864.1:p.Val291Ile
NM_001440.4:c.871G>A MANE Select	NP_001431.1:p.Val291Ile
NR_073468.2:n.160-14293G>A
NR_073469.2:n.735+864G>A