Canonical Allele Identifier: CA351663715
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1237510370
gnomAD v4: 3-8745825-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745825G>C , CM000665.2:g.8745825G>C GRCh38
NC_000003.11:g.8787511G>C , CM000665.1:g.8787511G>C GRCh37
NC_000003.10:g.8762511G>C NCBI36
NG_008797.2:g.17016G>C , LRG_329:g.17016G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.414G>C MANE Select ENSP00000341940.2:p.Gln138His
ENST00000343849.2:c.414G>C ENSP00000341940.2:p.Gln138His
ENST00000397368.2:c.414G>C ENSP00000380525.2:p.Gln138His
ENST00000472766.1:n.155+11835G>C
NM_001234.4:c.414G>C NP_001225.1:p.Gln138His
NM_033337.2:c.414G>C , LRG_329t1:c.414G>C NP_203123.1:p.Gln138His
NM_001234.5:c.414G>C NP_001225.1:p.Gln138His
NM_033337.3:c.414G>C MANE Select NP_203123.1:p.Gln138His