Canonical Allele Identifier: CA351661125

Linked Data

dbSNP Id: rs1361337369
gnomAD v2: 3-8775564-T-C
gnomAD v4: 3-8733878-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733878T>C , CM000665.2:g.8733878T>C GRCh38
NC_000003.11:g.8775564T>C , CM000665.1:g.8775564T>C GRCh37
NC_000003.10:g.8750564T>C NCBI36
NG_008797.2:g.5069T>C , LRG_329:g.5069T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.2T>C (CAV3) MANE Select ENSP00000341940.2:p.Met1Thr
ENST00000343849.2:c.2T>C (CAV3) ENSP00000341940.2:p.Met1Thr
ENST00000397368.2:c.2T>C (CAV3) ENSP00000380525.2:p.Met1Thr
ENST00000435138.5:c.64+8581A>G (SSUH2) ENSP00000412333.1:n.64+8581A>G
ENST00000472766.1:n.43T>C (CAV3)
ENST00000478513.1:n.335+8581A>G (SSUH2)
NM_001234.4:c.2T>C (CAV3) NP_001225.1:p.Met1Thr
NM_033337.2:c.2T>C , LRG_329t1:c.2T>C (CAV3) NP_203123.1:p.Met1Thr
XR_940435.1:n.330+8581A>G (SSUH2)
XM_017006530.1:c.-283+8581A>G (SSUH2) XP_016862019.1:n.-283+8581A>G
NM_001234.5:c.2T>C (CAV3) NP_001225.1:p.Met1Thr
NM_033337.3:c.2T>C (CAV3) MANE Select NP_203123.1:p.Met1Thr