Canonical Allele Identifier: CA10587002
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255168
ClinVar RCV Id: RCV000244742
dbSNP Id: rs886038242
gnomAD v3: 8-117837144-G-A
gnomAD v4: 8-117837144-G-A
MyVariant Identifiers: chr8:g.118849383G>A (hg19) chr8:g.117837144G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837144G>A , CM000670.2:g.117837144G>A GRCh38
NC_000008.10:g.118849383G>A , CM000670.1:g.118849383G>A GRCh37
NC_000008.9:g.118918564G>A NCBI36
NG_007455.2:g.279676C>T , LRG_493:g.279676C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.487C>T
ENST00000378204.7:c.1020C>T MANE Select ENSP00000367446.3:p.Arg340=
ENST00000436216.2:c.388C>T
ENST00000378204.6:c.1020C>T ENSP00000367446.2:p.Arg340=
ENST00000436216.1:c.388C>T
ENST00000437196.1:c.74-1593C>T ENSP00000407299.1:n.74-1593C>T
NM_000127.2:c.1020C>T , LRG_493t1:c.1020C>T NP_000118.2:p.Arg340=
NM_000127.3:c.1020C>T MANE Select NP_000118.2:p.Arg340=
Search 100 bp 5'
Search 100 bp 3'