Canonical Allele Identifier: CA4854235
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 707063
ClinVar RCV Id: RCV000877899 RCV001655634 RCV003948263
dbSNP Id: rs142122090
ExAC: 8:118847730 T / C
gnomAD v2: 8-118847730-T-C
gnomAD v3: 8-117835491-T-C
gnomAD v4: 8-117835491-T-C
MyVariant Identifiers: chr8:g.118847730T>C (hg19) chr8:g.117835491T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835491T>C , CM000670.2:g.117835491T>C GRCh38
NC_000008.10:g.118847730T>C , CM000670.1:g.118847730T>C GRCh37
NC_000008.9:g.118916911T>C NCBI36
NG_007455.2:g.281329A>G , LRG_493:g.281329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.584A>G
ENST00000378204.7:c.1117A>G MANE Select ENSP00000367446.3:p.Asn373Asp
ENST00000436216.2:c.485A>G
ENST00000378204.6:c.1117A>G ENSP00000367446.2:p.Asn373Asp
ENST00000436216.1:c.485A>G
ENST00000437196.1:c.*8A>G ENSP00000407299.1:n.*8A>G
NM_000127.2:c.1117A>G , LRG_493t1:c.1117A>G NP_000118.2:p.Asn373Asp
NM_000127.3:c.1117A>G MANE Select NP_000118.2:p.Asn373Asp
Search 100 bp 5'
Search 100 bp 3'