Canonical Allele Identifier: CA1813957425

Gene: EXT1

Linked Data

• ClinVar Variation Id: 3019226
• ClinVar RCV Id: RCV003871857
• dbSNP Id: rs1812202362
• gnomAD v4: 8-117837214-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837214G>A , CM000670.2:g.117837214G>A	GRCh38
NC_000008.10:g.118849453G>A , CM000670.1:g.118849453G>A	GRCh37
NC_000008.9:g.118918634G>A	NCBI36
NG_007455.2:g.279606C>T , LRG_493:g.279606C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-13C>T
ENST00000378204.7:c.963-13C>T MANE Select	ENSP00000367446.3:n.963-13C>T
ENST00000436216.2:c.331-13C>T
ENST00000378204.6:c.963-13C>T	ENSP00000367446.2:n.963-13C>T
ENST00000436216.1:c.331-13C>T
ENST00000437196.1:c.74-1663C>T	ENSP00000407299.1:n.74-1663C>T
NM_000127.2:c.963-13C>T , LRG_493t1:c.963-13C>T	NP_000118.2:n.963-13C>T
NM_000127.3:c.963-13C>T MANE Select	NP_000118.2:n.963-13C>T