Canonical Allele Identifier: CA4854276
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2971687
ClinVar RCV Id: RCV003832749
dbSNP Id: rs745315078
ExAC: 8:118849455 G / A
gnomAD v2: 8-118849455-G-A
gnomAD v4: 8-117837216-G-A
MyVariant Identifiers: chr8:g.118849455G>A (hg19) chr8:g.117837216G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117837216G>A , CM000670.2:g.117837216G>A GRCh38
NC_000008.10:g.118849455G>A , CM000670.1:g.118849455G>A GRCh37
NC_000008.9:g.118918636G>A NCBI36
NG_007455.2:g.279604C>T , LRG_493:g.279604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.430-15C>T
ENST00000378204.7:c.963-15C>T MANE Select ENSP00000367446.3:n.963-15C>T
ENST00000436216.2:c.331-15C>T
ENST00000378204.6:c.963-15C>T ENSP00000367446.2:n.963-15C>T
ENST00000436216.1:c.331-15C>T
ENST00000437196.1:c.74-1665C>T ENSP00000407299.1:n.74-1665C>T
NM_000127.2:c.963-15C>T , LRG_493t1:c.963-15C>T NP_000118.2:n.963-15C>T
NM_000127.3:c.963-15C>T MANE Select NP_000118.2:n.963-15C>T
Search 100 bp 5'
Search 100 bp 3'