Canonical Allele Identifier: CA4854139

Gene: EXT1

Linked Data

• ClinVar Variation Id: 255172
• ClinVar RCV Id: RCV000253889 ; RCV000368045 ; RCV001675682
• dbSNP Id: rs17439693
• ExAC: 8:118832020 G / A
• gnomAD v2: 8-118832020-G-A
• gnomAD v3: 8-117819781-G-A
• gnomAD v4: 8-117819781-G-A
• MyVariant Identifiers: chr8:g.118832020G>A (hg19) ; chr8:g.117819781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819781G>A , CM000670.2:g.117819781G>A	GRCh38
NC_000008.10:g.118832020G>A , CM000670.1:g.118832020G>A	GRCh37
NC_000008.9:g.118901201G>A	NCBI36
NG_007455.2:g.297039C>T , LRG_493:g.297039C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684189.1:n.898C>T
ENST00000378204.7:c.1431C>T MANE Select	ENSP00000367446.3:p.Pro477=
ENST00000378204.6:c.1431C>T	ENSP00000367446.2:p.Pro477=
ENST00000437196.1:c.*322C>T	ENSP00000407299.1:n.*322C>T
NM_000127.2:c.1431C>T , LRG_493t1:c.1431C>T	NP_000118.2:p.Pro477=
NM_000127.3:c.1431C>T MANE Select	NP_000118.2:p.Pro477=