Canonical Allele Identifier: CA371914689
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2136700
ClinVar RCV Id: RCV003062179
dbSNP Id: rs1817867488
gnomAD v3: 8-118110100-T-C
gnomAD v4: 8-118110100-T-C
MyVariant Identifiers: chr8:g.119122339T>C (hg19) chr8:g.118110100T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110100T>C , CM000670.2:g.118110100T>C GRCh38
NC_000008.10:g.119122339T>C , CM000670.1:g.119122339T>C GRCh37
NC_000008.9:g.119191520T>C NCBI36
NG_007455.2:g.6720A>G , LRG_493:g.6720A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.947A>G MANE Select ENSP00000367446.3:p.Asn316Ser
ENST00000436216.2:c.315A>G
ENST00000378204.6:c.947A>G ENSP00000367446.2:p.Asn316Ser
ENST00000436216.1:c.315A>G
ENST00000437196.1:c.73+874A>G ENSP00000407299.1:n.73+874A>G
NM_000127.2:c.947A>G , LRG_493t1:c.947A>G NP_000118.2:p.Asn316Ser
NM_000127.3:c.947A>G MANE Select NP_000118.2:p.Asn316Ser
Search 100 bp 5'
Search 100 bp 3'