Canonical Allele Identifier: CA371914783
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1670782
ClinVar RCV Id: RCV002204073 RCV003896059
dbSNP Id: rs1176457130
gnomAD v2: 8-119122377-G-C
gnomAD v3: 8-118110138-G-C
gnomAD v4: 8-118110138-G-C
MyVariant Identifiers: chr8:g.119122377G>C (hg19) chr8:g.118110138G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110138G>C , CM000670.2:g.118110138G>C GRCh38
NC_000008.10:g.119122377G>C , CM000670.1:g.119122377G>C GRCh37
NC_000008.9:g.119191558G>C NCBI36
NG_007455.2:g.6682C>G , LRG_493:g.6682C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.909C>G MANE Select ENSP00000367446.3:p.Asp303Glu
ENST00000436216.2:c.277C>G
ENST00000378204.6:c.909C>G ENSP00000367446.2:p.Asp303Glu
ENST00000436216.1:c.277C>G
ENST00000437196.1:c.73+836C>G ENSP00000407299.1:n.73+836C>G
NM_000127.2:c.909C>G , LRG_493t1:c.909C>G NP_000118.2:p.Asp303Glu
NM_000127.3:c.909C>G MANE Select NP_000118.2:p.Asp303Glu
Search 100 bp 5'
Search 100 bp 3'