Canonical Allele Identifier: CA1044893817
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1708118902
gnomAD v3: 3-8745336-C-T
gnomAD v4: 3-8745336-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745336C>T , CM000665.2:g.8745336C>T GRCh38
NC_000003.11:g.8787022C>T , CM000665.1:g.8787022C>T GRCh37
NC_000003.10:g.8762022C>T NCBI36
NG_008797.2:g.16527C>T , LRG_329:g.16527C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-190C>T MANE Select ENSP00000341940.2:n.115-190C>T
ENST00000343849.2:c.115-190C>T ENSP00000341940.2:n.115-190C>T
ENST00000397368.2:c.115-190C>T ENSP00000380525.2:n.115-190C>T
ENST00000472766.1:n.155+11346C>T
NM_001234.4:c.115-190C>T NP_001225.1:n.115-190C>T
NM_033337.2:c.115-190C>T , LRG_329t1:c.115-190C>T NP_203123.1:n.115-190C>T
NM_001234.5:c.115-190C>T NP_001225.1:n.115-190C>T
NM_033337.3:c.115-190C>T MANE Select NP_203123.1:n.115-190C>T
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