Canonical Allele Identifier: CA10624657

Gene: EXT1

Linked Data

• ClinVar Variation Id: 361669
• ClinVar RCV Id: RCV000403964
• dbSNP Id: rs886062639
• gnomAD v2: 8-119123643-A-G
• gnomAD v3: 8-118111404-A-G
• gnomAD v4: 8-118111404-A-G
• MyVariant Identifiers: chr8:g.119123643A>G (hg19) ; chr8:g.118111404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.118111404A>G , CM000670.2:g.118111404A>G	GRCh38
NC_000008.10:g.119123643A>G , CM000670.1:g.119123643A>G	GRCh37
NC_000008.9:g.119192824A>G	NCBI36
NG_007455.2:g.5416T>C , LRG_493:g.5416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378204.7:c.-358T>C MANE Select	ENSP00000367446.3:n.-358T>C
ENST00000378204.6:c.-358T>C	ENSP00000367446.2:n.-358T>C
NM_000127.2:c.-358T>C , LRG_493t1:c.-358T>C	NP_000118.2:n.-358T>C
NM_000127.3:c.-358T>C MANE Select	NP_000118.2:n.-358T>C