Canonical Allele Identifier: CA184296527
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2856326
ClinVar RCV Id: RCV003605000
dbSNP Id: rs146983754
gnomAD v2: 8-118847703-C-T
gnomAD v3: 8-117835464-C-T
gnomAD v4: 8-117835464-C-T
MyVariant Identifiers: chr8:g.118847703C>T (hg19) chr8:g.117835464C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835464C>T , CM000670.2:g.117835464C>T GRCh38
NC_000008.10:g.118847703C>T , CM000670.1:g.118847703C>T GRCh37
NC_000008.9:g.118916884C>T NCBI36
NG_007455.2:g.281356G>A , LRG_493:g.281356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.611G>A
ENST00000378204.7:c.1144G>A MANE Select ENSP00000367446.3:p.Asp382Asn
ENST00000436216.2:c.512G>A
ENST00000378204.6:c.1144G>A ENSP00000367446.2:p.Asp382Asn
ENST00000436216.1:c.512G>A
ENST00000437196.1:c.*35G>A ENSP00000407299.1:n.*35G>A
NM_000127.2:c.1144G>A , LRG_493t1:c.1144G>A NP_000118.2:p.Asp382Asn
NM_000127.3:c.1144G>A MANE Select NP_000118.2:p.Asp382Asn
Search 100 bp 5'
Search 100 bp 3'