Canonical Allele Identifier: CA584339054
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs1469876085
gnomAD v2: 8-118832107-C-T
gnomAD v3: 8-117819868-C-T
gnomAD v4: 8-117819868-C-T
MyVariant Identifiers: chr8:g.118832107C>T (hg19) chr8:g.117819868C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117819868C>T , CM000670.2:g.117819868C>T GRCh38
NC_000008.10:g.118832107C>T , CM000670.1:g.118832107C>T GRCh37
NC_000008.9:g.118901288C>T NCBI36
NG_007455.2:g.296952G>A , LRG_493:g.296952G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.885-74G>A
ENST00000378204.7:c.1418-74G>A MANE Select ENSP00000367446.3:n.1418-74G>A
ENST00000378204.6:c.1418-74G>A ENSP00000367446.2:n.1418-74G>A
ENST00000437196.1:c.*309-74G>A ENSP00000407299.1:n.*309-74G>A
NM_000127.2:c.1418-74G>A , LRG_493t1:c.1418-74G>A NP_000118.2:n.1418-74G>A
NM_000127.3:c.1418-74G>A MANE Select NP_000118.2:n.1418-74G>A
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