Canonical Allele Identifier: CA2688346678
Gene: EXT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2788138
ClinVar RCV Id: RCV003603337
gnomAD v4: 8-117835441-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.117835441T>C , CM000670.2:g.117835441T>C GRCh38
NC_000008.10:g.118847680T>C , CM000670.1:g.118847680T>C GRCh37
NC_000008.9:g.118916861T>C NCBI36
NG_007455.2:g.281379A>G , LRG_493:g.281379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000684189.1:n.631+3A>G
ENST00000378204.7:c.1164+3A>G MANE Select ENSP00000367446.3:n.1164+3A>G
ENST00000436216.2:c.532+3A>G
ENST00000378204.6:c.1164+3A>G ENSP00000367446.2:n.1164+3A>G
ENST00000436216.1:c.532+3A>G
ENST00000437196.1:c.*55+3A>G ENSP00000407299.1:n.*55+3A>G
NM_000127.2:c.1164+3A>G , LRG_493t1:c.1164+3A>G NP_000118.2:n.1164+3A>G
NM_000127.3:c.1164+3A>G MANE Select NP_000118.2:n.1164+3A>G
Search 100 bp 5'
Search 100 bp 3'