Canonical Allele Identifier: CA4854299
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003445
ClinVar RCV Id: RCV001299997
dbSNP Id: rs748945641
ExAC: 8:119122336 G / C
gnomAD v2: 8-119122336-G-C
gnomAD v3: 8-118110097-G-C
gnomAD v4: 8-118110097-G-C
MyVariant Identifiers: chr8:g.119122336G>C (hg19) chr8:g.118110097G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.118110097G>C , CM000670.2:g.118110097G>C GRCh38
NC_000008.10:g.119122336G>C , CM000670.1:g.119122336G>C GRCh37
NC_000008.9:g.119191517G>C NCBI36
NG_007455.2:g.6723C>G , LRG_493:g.6723C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378204.7:c.950C>G MANE Select ENSP00000367446.3:p.Thr317Ser
ENST00000436216.2:c.318C>G
ENST00000378204.6:c.950C>G ENSP00000367446.2:p.Thr317Ser
ENST00000436216.1:c.318C>G
ENST00000437196.1:c.73+877C>G ENSP00000407299.1:n.73+877C>G
NM_000127.2:c.950C>G , LRG_493t1:c.950C>G NP_000118.2:p.Thr317Ser
NM_000127.3:c.950C>G MANE Select NP_000118.2:p.Thr317Ser
Search 100 bp 5'
Search 100 bp 3'