Canonical Allele Identifier: CA4854232
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1423484
ClinVar RCV Id: RCV001928874 RCV003471065 RCV004044202
dbSNP Id: rs747020325
ExAC: 8:118847709 T / C
gnomAD v2: 8-118847709-T-C
gnomAD v3: 8-117835470-T-C
gnomAD v4: 8-117835470-T-C
MyVariant Identifiers: chr8:g.118847709T>C (hg19) chr8:g.117835470T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835470T>C , CM000670.2:g.117835470T>C GRCh38
NC_000008.10:g.118847709T>C , CM000670.1:g.118847709T>C GRCh37
NC_000008.9:g.118916890T>C NCBI36
NG_007455.2:g.281350A>G , LRG_493:g.281350A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.605A>G
ENST00000378204.7:c.1138A>G MANE Select ENSP00000367446.3:p.Ile380Val
ENST00000436216.2:c.506A>G
ENST00000378204.6:c.1138A>G ENSP00000367446.2:p.Ile380Val
ENST00000436216.1:c.506A>G
ENST00000437196.1:c.*29A>G ENSP00000407299.1:n.*29A>G
NM_000127.2:c.1138A>G , LRG_493t1:c.1138A>G NP_000118.2:p.Ile380Val
NM_000127.3:c.1138A>G MANE Select NP_000118.2:p.Ile380Val
Search 100 bp 5'
Search 100 bp 3'