Canonical Allele Identifier: CA371914758
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3091273
ClinVar RCV Id: RCV004385659
dbSNP Id: rs868526834
MyVariant Identifiers: chr8:g.119122368C>A (hg19) chr8:g.118110129C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110129C>A , CM000670.2:g.118110129C>A GRCh38
NC_000008.10:g.119122368C>A , CM000670.1:g.119122368C>A GRCh37
NC_000008.9:g.119191549C>A NCBI36
NG_007455.2:g.6691G>T , LRG_493:g.6691G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378204.7:c.918G>T MANE Select ENSP00000367446.3:p.Lys306Asn
ENST00000436216.2:c.286G>T
ENST00000378204.6:c.918G>T ENSP00000367446.2:p.Lys306Asn
ENST00000436216.1:c.286G>T
ENST00000437196.1:c.73+845G>T ENSP00000407299.1:n.73+845G>T
NM_000127.2:c.918G>T , LRG_493t1:c.918G>T NP_000118.2:p.Lys306Asn
NM_000127.3:c.918G>T MANE Select NP_000118.2:p.Lys306Asn
Search 100 bp 5'
Search 100 bp 3'