Canonical Allele Identifier: CA371893381

Gene: EXT1

Linked Data

• ClinVar Variation Id: 1371761
• ClinVar RCV Id: RCV001899654 ; RCV003464192
• dbSNP Id: rs1394508840
• gnomAD v2: 8-118849430-G-A
• gnomAD v3: 8-117837191-G-A
• gnomAD v4: 8-117837191-G-A
• COSMIC: COSM1674134
• MyVariant Identifiers: chr8:g.118849430G>A (hg19) ; chr8:g.117837191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837191G>A , CM000670.2:g.117837191G>A	GRCh38
NC_000008.10:g.118849430G>A , CM000670.1:g.118849430G>A	GRCh37
NC_000008.9:g.118918611G>A	NCBI36
NG_007455.2:g.279629C>T , LRG_493:g.279629C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.440C>T
ENST00000378204.7:c.973C>T MANE Select	ENSP00000367446.3:p.Arg325Trp
ENST00000436216.2:c.341C>T
ENST00000378204.6:c.973C>T	ENSP00000367446.2:p.Arg325Trp
ENST00000436216.1:c.341C>T
ENST00000437196.1:c.74-1640C>T	ENSP00000407299.1:n.74-1640C>T
NM_000127.2:c.973C>T , LRG_493t1:c.973C>T	NP_000118.2:p.Arg325Trp
NM_000127.3:c.973C>T MANE Select	NP_000118.2:p.Arg325Trp