Canonical Allele Identifier: CA4854264
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 720159
ClinVar RCV Id: RCV002065599
dbSNP Id: rs751521449
ExAC: 8:118849353 A / C
gnomAD v2: 8-118849353-A-C
gnomAD v3: 8-117837114-A-C
gnomAD v4: 8-117837114-A-C
MyVariant Identifiers: chr8:g.118849353A>C (hg19) chr8:g.117837114A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837114A>C , CM000670.2:g.117837114A>C GRCh38
NC_000008.10:g.118849353A>C , CM000670.1:g.118849353A>C GRCh37
NC_000008.9:g.118918534A>C NCBI36
NG_007455.2:g.279706T>G , LRG_493:g.279706T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.517T>G
ENST00000378204.7:c.1050T>G MANE Select ENSP00000367446.3:p.Ala350=
ENST00000436216.2:c.418T>G
ENST00000378204.6:c.1050T>G ENSP00000367446.2:p.Ala350=
ENST00000436216.1:c.418T>G
ENST00000437196.1:c.74-1563T>G ENSP00000407299.1:n.74-1563T>G
NM_000127.2:c.1050T>G , LRG_493t1:c.1050T>G NP_000118.2:p.Ala350=
NM_000127.3:c.1050T>G MANE Select NP_000118.2:p.Ala350=
Search 100 bp 5'
Search 100 bp 3'