Canonical Allele Identifier: CA4854268
Gene: EXT1 HGNC NCBI

Linked Data

dbSNP Id: rs756329599
ExAC: 8:118849397 C / T
gnomAD v2: 8-118849397-C-T
gnomAD v3: 8-117837158-C-T
gnomAD v4: 8-117837158-C-T
MyVariant Identifiers: chr8:g.118849397C>T (hg19) chr8:g.117837158C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837158C>T , CM000670.2:g.117837158C>T GRCh38
NC_000008.10:g.118849397C>T , CM000670.1:g.118849397C>T GRCh37
NC_000008.9:g.118918578C>T NCBI36
NG_007455.2:g.279662G>A , LRG_493:g.279662G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000684189.1:n.473G>A
ENST00000378204.7:c.1006G>A MANE Select ENSP00000367446.3:p.Val336Ile
ENST00000436216.2:c.374G>A
ENST00000378204.6:c.1006G>A ENSP00000367446.2:p.Val336Ile
ENST00000436216.1:c.374G>A
ENST00000437196.1:c.74-1607G>A ENSP00000407299.1:n.74-1607G>A
NM_000127.2:c.1006G>A , LRG_493t1:c.1006G>A NP_000118.2:p.Val336Ile
NM_000127.3:c.1006G>A MANE Select NP_000118.2:p.Val336Ile
Search 100 bp 5'
Search 100 bp 3'