Canonical Allele Identifier: CA371878203
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 987979
ClinVar RCV Id: RCV001269357 RCV002541642
dbSNP Id: rs755747479
gnomAD v4: 8-117807286-C-T
MyVariant Identifiers: chr8:g.118819525C>T (hg19) chr8:g.117807286C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117807286C>T , CM000670.2:g.117807286C>T GRCh38
NC_000008.10:g.118819525C>T , CM000670.1:g.118819525C>T GRCh37
NC_000008.9:g.118888706C>T NCBI36
NG_007455.2:g.309534G>A , LRG_493:g.309534G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.1281G>A
ENST00000378204.7:c.1814G>A MANE Select ENSP00000367446.3:p.Arg605Gln
ENST00000378204.6:c.1814G>A ENSP00000367446.2:p.Arg605Gln
ENST00000437196.1:c.*705G>A ENSP00000407299.1:n.*705G>A
NM_000127.2:c.1814G>A , LRG_493t1:c.1814G>A NP_000118.2:p.Arg605Gln
NM_000127.3:c.1814G>A MANE Select NP_000118.2:p.Arg605Gln
Search 100 bp 5'
Search 100 bp 3'