Canonical Allele Identifier: CA4854241

Gene: EXT1

Linked Data

• ClinVar Variation Id: 361658
• ClinVar RCV Id: RCV000307037 ; RCV000827733 ; RCV003153565 ; RCV003422357
• dbSNP Id: rs61753260
• ExAC: 8:118847781 C / T
• gnomAD v2: 8-118847781-C-T
• gnomAD v3: 8-117835542-C-T
• gnomAD v4: 8-117835542-C-T
• MyVariant Identifiers: chr8:g.118847781C>T (hg19) ; chr8:g.117835542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117835542C>T , CM000670.2:g.117835542C>T	GRCh38
NC_000008.10:g.118847781C>T , CM000670.1:g.118847781C>T	GRCh37
NC_000008.9:g.118916962C>T	NCBI36
NG_007455.2:g.281278G>A , LRG_493:g.281278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.533G>A
ENST00000378204.7:c.1066G>A MANE Select	ENSP00000367446.3:p.Val356Ile
ENST00000436216.2:c.434G>A
ENST00000378204.6:c.1066G>A	ENSP00000367446.2:p.Val356Ile
ENST00000436216.1:c.434G>A
ENST00000437196.1:c.83G>A	ENSP00000407299.1:p.Arg28His
NM_000127.2:c.1066G>A , LRG_493t1:c.1066G>A	NP_000118.2:p.Val356Ile
NM_000127.3:c.1066G>A MANE Select	NP_000118.2:p.Val356Ile