Canonical Allele Identifier: CA462468814
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2178540
ClinVar RCV Id: RCV002591430
dbSNP Id: rs1201282610
gnomAD v2: 8-118847713-G-A
gnomAD v4: 8-117835474-G-A
COSMIC: COSM1095377
MyVariant Identifiers: chr8:g.118847713G>A (hg19) chr8:g.117835474G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835474G>A , CM000670.2:g.117835474G>A GRCh38
NC_000008.10:g.118847713G>A , CM000670.1:g.118847713G>A GRCh37
NC_000008.9:g.118916894G>A NCBI36
NG_007455.2:g.281346C>T , LRG_493:g.281346C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.601C>T
ENST00000378204.7:c.1134C>T MANE Select ENSP00000367446.3:p.Ala378=
ENST00000436216.2:c.502C>T
ENST00000378204.6:c.1134C>T ENSP00000367446.2:p.Ala378=
ENST00000436216.1:c.502C>T
ENST00000437196.1:c.*25C>T ENSP00000407299.1:n.*25C>T
NM_000127.2:c.1134C>T , LRG_493t1:c.1134C>T NP_000118.2:p.Ala378=
NM_000127.3:c.1134C>T MANE Select NP_000118.2:p.Ala378=
Search 100 bp 5'
Search 100 bp 3'