Canonical Allele Identifier: CA584473500
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1244985724
gnomAD v2: 8-119124069-C-G
gnomAD v3: 8-118111830-C-G
gnomAD v4: 8-118111830-C-G
MyVariant Identifiers: chr8:g.119124069C>G (hg19) chr8:g.118111830C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111830C>G , CM000670.2:g.118111830C>G GRCh38
NC_000008.10:g.119124069C>G , CM000670.1:g.119124069C>G GRCh37
NC_000008.9:g.119193250C>G NCBI36
NG_007455.2:g.4990G>C , LRG_493:g.4990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.6:c.-784G>C ENSP00000367446.2:n.-784G>C
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