Canonical Allele Identifier: CA846256275
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 908145
ClinVar RCV Id: RCV001158475
dbSNP Id: rs1381790284
gnomAD v3: 8-118111763-C-G
gnomAD v4: 8-118111763-C-G
MyVariant Identifiers: chr8:g.119124002C>G (hg19) chr8:g.118111763C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118111763C>G , CM000670.2:g.118111763C>G GRCh38
NC_000008.10:g.119124002C>G , CM000670.1:g.119124002C>G GRCh37
NC_000008.9:g.119193183C>G NCBI36
NG_007455.2:g.5057G>C , LRG_493:g.5057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.-717G>C MANE Select ENSP00000367446.3:n.-717G>C
ENST00000378204.6:c.-717G>C ENSP00000367446.2:n.-717G>C
NM_000127.2:c.-717G>C , LRG_493t1:c.-717G>C NP_000118.2:n.-717G>C
NM_000127.3:c.-717G>C MANE Select NP_000118.2:n.-717G>C
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