Canonical Allele Identifier: CA159098

Gene: EXT1

Linked Data

• ClinVar Variation Id: 134200
• ClinVar RCV Id: RCV000120873 ; RCV000315374 ; RCV000395683 ; RCV001355602 ; RCV003315752
• dbSNP Id: rs201504622
• ExAC: 8:118834761 C / T
• gnomAD v2: 8-118834761-C-T
• gnomAD v3: 8-117822522-C-T
• gnomAD v4: 8-117822522-C-T
• MyVariant Identifiers: chr8:g.118834761C>T (hg19) ; chr8:g.117822522C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117822522C>T , CM000670.2:g.117822522C>T	GRCh38
NC_000008.10:g.118834761C>T , CM000670.1:g.118834761C>T	GRCh37
NC_000008.9:g.118903942C>T	NCBI36
NG_007455.2:g.294298G>A , LRG_493:g.294298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.827G>A
ENST00000378204.7:c.1360G>A MANE Select	ENSP00000367446.3:p.Val454Ile
ENST00000436216.2:c.783G>A
ENST00000378204.6:c.1360G>A	ENSP00000367446.2:p.Val454Ile
ENST00000437196.1:c.*251G>A	ENSP00000407299.1:n.*251G>A
NM_000127.2:c.1360G>A , LRG_493t1:c.1360G>A	NP_000118.2:p.Val454Ile
NM_000127.3:c.1360G>A MANE Select	NP_000118.2:p.Val454Ile