Canonical Allele Identifier: CA846207503
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1457744702
gnomAD v3: 8-117820060-T-C
gnomAD v4: 8-117820060-T-C
MyVariant Identifiers: chr8:g.118832299T>C (hg19) chr8:g.117820060T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117820060T>C , CM000670.2:g.117820060T>C GRCh38
NC_000008.10:g.118832299T>C , CM000670.1:g.118832299T>C GRCh37
NC_000008.9:g.118901480T>C NCBI36
NG_007455.2:g.296760A>G , LRG_493:g.296760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-266A>G
ENST00000378204.7:c.1418-266A>G MANE Select ENSP00000367446.3:n.1418-266A>G
ENST00000378204.6:c.1418-266A>G ENSP00000367446.2:n.1418-266A>G
ENST00000437196.1:c.*309-266A>G ENSP00000407299.1:n.*309-266A>G
NM_000127.2:c.1418-266A>G , LRG_493t1:c.1418-266A>G NP_000118.2:n.1418-266A>G
NM_000127.3:c.1418-266A>G MANE Select NP_000118.2:n.1418-266A>G
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