Canonical Allele Identifier: CA159095

Gene: EXT1

Linked Data

• ClinVar Variation Id: 134199
• ClinVar RCV Id: RCV000120872 ; RCV001304404 ; RCV003467079
• dbSNP Id: rs371233961
• ExAC: 8:118847712 C / T
• gnomAD v2: 8-118847712-C-T
• gnomAD v3: 8-117835473-C-T
• gnomAD v4: 8-117835473-C-T
• MyVariant Identifiers: chr8:g.118847712C>T (hg19) ; chr8:g.117835473C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835473C>T , CM000670.2:g.117835473C>T	GRCh38
NC_000008.10:g.118847712C>T , CM000670.1:g.118847712C>T	GRCh37
NC_000008.9:g.118916893C>T	NCBI36
NG_007455.2:g.281347G>A , LRG_493:g.281347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.602G>A
ENST00000378204.7:c.1135G>A MANE Select	ENSP00000367446.3:p.Val379Ile
ENST00000436216.2:c.503G>A
ENST00000378204.6:c.1135G>A	ENSP00000367446.2:p.Val379Ile
ENST00000436216.1:c.503G>A
ENST00000437196.1:c.*26G>A	ENSP00000407299.1:n.*26G>A
NM_000127.2:c.1135G>A , LRG_493t1:c.1135G>A	NP_000118.2:p.Val379Ile
NM_000127.3:c.1135G>A MANE Select	NP_000118.2:p.Val379Ile