Canonical Allele Identifier: CA4854282

Gene: EXT1

Linked Data

• ClinVar Variation Id: 1188018
• ClinVar RCV Id: RCV001547659
• dbSNP Id: rs17503481
• ExAC: 8:118849485 A / G
• gnomAD v2: 8-118849485-A-G
• gnomAD v3: 8-117837246-A-G
• gnomAD v4: 8-117837246-A-G
• MyVariant Identifiers: chr8:g.118849485A>G (hg19) ; chr8:g.117837246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117837246A>G , CM000670.2:g.117837246A>G	GRCh38
NC_000008.10:g.118849485A>G , CM000670.1:g.118849485A>G	GRCh37
NC_000008.9:g.118918666A>G	NCBI36
NG_007455.2:g.279574T>C , LRG_493:g.279574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.430-45T>C
ENST00000378204.7:c.963-45T>C MANE Select	ENSP00000367446.3:n.963-45T>C
ENST00000436216.2:c.331-45T>C
ENST00000378204.6:c.963-45T>C	ENSP00000367446.2:n.963-45T>C
ENST00000436216.1:c.331-45T>C
ENST00000437196.1:c.74-1695T>C	ENSP00000407299.1:n.74-1695T>C
NM_000127.2:c.963-45T>C , LRG_493t1:c.963-45T>C	NP_000118.2:n.963-45T>C
NM_000127.3:c.963-45T>C MANE Select	NP_000118.2:n.963-45T>C