Canonical Allele Identifier: CA371893222
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2805639
ClinVar RCV Id: RCV003604083
gnomAD v4: 8-117837113-A-C
MyVariant Identifiers: chr8:g.118849352A>C (hg19) chr8:g.117837113A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837113A>C , CM000670.2:g.117837113A>C GRCh38
NC_000008.10:g.118849352A>C , CM000670.1:g.118849352A>C GRCh37
NC_000008.9:g.118918533A>C NCBI36
NG_007455.2:g.279707T>G , LRG_493:g.279707T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.518T>G
ENST00000378204.7:c.1051T>G MANE Select ENSP00000367446.3:p.Leu351Val
ENST00000436216.2:c.419T>G
ENST00000378204.6:c.1051T>G ENSP00000367446.2:p.Leu351Val
ENST00000436216.1:c.419T>G
ENST00000437196.1:c.74-1562T>G ENSP00000407299.1:n.74-1562T>G
NM_000127.2:c.1051T>G , LRG_493t1:c.1051T>G NP_000118.2:p.Leu351Val
NM_000127.3:c.1051T>G MANE Select NP_000118.2:p.Leu351Val
Search 100 bp 5'
Search 100 bp 3'