Canonical Allele Identifier: CA371890190

Gene: EXT1

Linked Data

• ClinVar Variation Id: 488691
• ClinVar RCV Id: RCV000630806 ; RCV000579207 ; RCV003458465
• dbSNP Id: rs1363815113
• gnomAD v2: 8-118812091-G-A
• gnomAD v4: 8-117799852-G-A
• MyVariant Identifiers: chr8:g.118812091G>A (hg19) ; chr8:g.117799852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117799852G>A , CM000670.2:g.117799852G>A	GRCh38
NC_000008.10:g.118812091G>A , CM000670.1:g.118812091G>A	GRCh37
NC_000008.9:g.118881272G>A	NCBI36
NG_007455.2:g.316968C>T , LRG_493:g.316968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1568C>T
ENST00000684443.1:n.2227C>T
ENST00000378204.7:c.2101C>T MANE Select	ENSP00000367446.3:p.Arg701Ter
ENST00000378204.6:c.2101C>T	ENSP00000367446.2:p.Arg701Ter
ENST00000437196.1:c.*992C>T	ENSP00000407299.1:n.*992C>T
NM_000127.2:c.2101C>T , LRG_493t1:c.2101C>T	NP_000118.2:p.Arg701Ter
NM_000127.3:c.2101C>T MANE Select	NP_000118.2:p.Arg701Ter