Canonical Allele Identifier: CA4853940

Gene: EXT1

Linked Data

• ClinVar Variation Id: 497792
• ClinVar RCV Id: RCV000592027 ; RCV003603058 ; RCV003980078
• dbSNP Id: rs757499157
• ExAC: 8:118812044 C / T
• gnomAD v2: 8-118812044-C-T
• gnomAD v3: 8-117799805-C-T
• gnomAD v4: 8-117799805-C-T
• MyVariant Identifiers: chr8:g.118812044C>T (hg19) ; chr8:g.117799805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117799805C>T , CM000670.2:g.117799805C>T	GRCh38
NC_000008.10:g.118812044C>T , CM000670.1:g.118812044C>T	GRCh37
NC_000008.9:g.118881225C>T	NCBI36
NG_007455.2:g.317015G>A , LRG_493:g.317015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.1615G>A
ENST00000684443.1:n.2274G>A
ENST00000378204.7:c.2148G>A MANE Select	ENSP00000367446.3:p.Pro716=
ENST00000378204.6:c.2148G>A	ENSP00000367446.2:p.Pro716=
NM_000127.2:c.2148G>A , LRG_493t1:c.2148G>A	NP_000118.2:p.Pro716=
NM_000127.3:c.2148G>A MANE Select	NP_000118.2:p.Pro716=