Canonical Allele Identifier: CA10630109
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 361670
ClinVar RCV Id: RCV000307984
dbSNP Id: rs372210548
gnomAD v2: 8-119123785-A-C
gnomAD v3: 8-118111546-A-C
gnomAD v4: 8-118111546-A-C
MyVariant Identifiers: chr8:g.119123785A>C (hg19) chr8:g.118111546A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111546A>C , CM000670.2:g.118111546A>C GRCh38
NC_000008.10:g.119123785A>C , CM000670.1:g.119123785A>C GRCh37
NC_000008.9:g.119192966A>C NCBI36
NG_007455.2:g.5274T>G , LRG_493:g.5274T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-500T>G MANE Select ENSP00000367446.3:n.-500T>G
ENST00000378204.6:c.-500T>G ENSP00000367446.2:n.-500T>G
NM_000127.2:c.-500T>G , LRG_493t1:c.-500T>G NP_000118.2:n.-500T>G
NM_000127.3:c.-500T>G MANE Select NP_000118.2:n.-500T>G
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