Canonical Allele Identifier: CA159101

Gene: EXT1

Linked Data

• ClinVar Variation Id: 134201
• ClinVar RCV Id: RCV000120874 ; RCV002515864 ; RCV003905151
• dbSNP Id: rs145720047
• ExAC: 8:118832021 G / C
• gnomAD v2: 8-118832021-G-C
• gnomAD v3: 8-117819782-G-C
• gnomAD v4: 8-117819782-G-C
• MyVariant Identifiers: chr8:g.118832021G>C (hg19) ; chr8:g.117819782G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.117819782G>C , CM000670.2:g.117819782G>C	GRCh38
NC_000008.10:g.118832021G>C , CM000670.1:g.118832021G>C	GRCh37
NC_000008.9:g.118901202G>C	NCBI36
NG_007455.2:g.297038C>G , LRG_493:g.297038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684189.1:n.897C>G
ENST00000378204.7:c.1430C>G MANE Select	ENSP00000367446.3:p.Pro477Arg
ENST00000378204.6:c.1430C>G	ENSP00000367446.2:p.Pro477Arg
ENST00000437196.1:c.*321C>G	ENSP00000407299.1:n.*321C>G
NM_000127.2:c.1430C>G , LRG_493t1:c.1430C>G	NP_000118.2:p.Pro477Arg
NM_000127.3:c.1430C>G MANE Select	NP_000118.2:p.Pro477Arg