Canonical Allele Identifier: CA4854016

Gene: EXT1

Linked Data

• ClinVar Variation Id: 255175
• ClinVar RCV Id: RCV000253590 ; RCV000394057
• dbSNP Id: rs7837891
• ExAC: 8:118819578 C / T
• gnomAD v2: 8-118819578-C-T
• gnomAD v3: 8-117807339-C-T
• gnomAD v4: 8-117807339-C-T
• MyVariant Identifiers: chr8:g.118819578C>T (hg19) ; chr8:g.117807339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117807339C>T , CM000670.2:g.117807339C>T	GRCh38
NC_000008.10:g.118819578C>T , CM000670.1:g.118819578C>T	GRCh37
NC_000008.9:g.118888759C>T	NCBI36
NG_007455.2:g.309481G>A , LRG_493:g.309481G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.1228G>A
ENST00000378204.7:c.1761G>A MANE Select	ENSP00000367446.3:p.Glu587=
ENST00000378204.6:c.1761G>A	ENSP00000367446.2:p.Glu587=
ENST00000437196.1:c.*652G>A	ENSP00000407299.1:n.*652G>A
NM_000127.2:c.1761G>A , LRG_493t1:c.1761G>A	NP_000118.2:p.Glu587=
NM_000127.3:c.1761G>A MANE Select	NP_000118.2:p.Glu587=