Canonical Allele Identifier: CA371914903
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2174969
ClinVar RCV Id: RCV002602210
dbSNP Id: rs551552671
gnomAD v2: 8-119122430-C-G
gnomAD v4: 8-118110191-C-G
COSMIC: COSM748504
MyVariant Identifiers: chr8:g.119122430C>G (hg19) chr8:g.118110191C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110191C>G , CM000670.2:g.118110191C>G GRCh38
NC_000008.10:g.119122430C>G , CM000670.1:g.119122430C>G GRCh37
NC_000008.9:g.119191611C>G NCBI36
NG_007455.2:g.6629G>C , LRG_493:g.6629G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.856G>C MANE Select ENSP00000367446.3:p.Val286Leu
ENST00000436216.2:c.224G>C
ENST00000378204.6:c.856G>C ENSP00000367446.2:p.Val286Leu
ENST00000436216.1:c.224G>C
ENST00000437196.1:c.73+783G>C ENSP00000407299.1:n.73+783G>C
NM_000127.2:c.856G>C , LRG_493t1:c.856G>C NP_000118.2:p.Val286Leu
NM_000127.3:c.856G>C MANE Select NP_000118.2:p.Val286Leu
Search 100 bp 5'
Search 100 bp 3'