Canonical Allele Identifier: CA4854275

Gene: EXT1

Linked Data

• ClinVar Variation Id: 2140604
• ClinVar RCV Id: RCV003056533
• dbSNP Id: rs367759458
• ExAC: 8:118849454 A / C
• gnomAD v2: 8-118849454-A-C
• gnomAD v3: 8-117837215-A-C
• gnomAD v4: 8-117837215-A-C
• MyVariant Identifiers: chr8:g.118849454A>C (hg19) ; chr8:g.117837215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837215A>C , CM000670.2:g.117837215A>C	GRCh38
NC_000008.10:g.118849454A>C , CM000670.1:g.118849454A>C	GRCh37
NC_000008.9:g.118918635A>C	NCBI36
NG_007455.2:g.279605T>G , LRG_493:g.279605T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-14T>G
ENST00000378204.7:c.963-14T>G MANE Select	ENSP00000367446.3:n.963-14T>G
ENST00000436216.2:c.331-14T>G
ENST00000378204.6:c.963-14T>G	ENSP00000367446.2:n.963-14T>G
ENST00000436216.1:c.331-14T>G
ENST00000437196.1:c.74-1664T>G	ENSP00000407299.1:n.74-1664T>G
NM_000127.2:c.963-14T>G , LRG_493t1:c.963-14T>G	NP_000118.2:n.963-14T>G
NM_000127.3:c.963-14T>G MANE Select	NP_000118.2:n.963-14T>G