Canonical Allele Identifier: CA351661311

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733916G>T , CM000665.2:g.8733916G>T GRCh38
NC_000003.11:g.8775602G>T , CM000665.1:g.8775602G>T GRCh37
NC_000003.10:g.8750602G>T NCBI36
NG_008797.2:g.5107G>T , LRG_329:g.5107G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.40G>T (CAV3) MANE Select ENSP00000341940.2:p.Val14Phe
ENST00000343849.2:c.40G>T (CAV3) ENSP00000341940.2:p.Val14Phe
ENST00000397368.2:c.40G>T (CAV3) ENSP00000380525.2:p.Val14Phe
ENST00000435138.5:c.64+8543C>A (SSUH2) ENSP00000412333.1:n.64+8543C>A
ENST00000472766.1:n.81G>T (CAV3)
ENST00000478513.1:n.335+8543C>A (SSUH2)
NM_001234.4:c.40G>T (CAV3) NP_001225.1:p.Val14Phe
NM_033337.2:c.40G>T , LRG_329t1:c.40G>T (CAV3) NP_203123.1:p.Val14Phe
XR_940435.1:n.330+8543C>A (SSUH2)
XM_017006530.1:c.-283+8543C>A (SSUH2) XP_016862019.1:n.-283+8543C>A
NM_001234.5:c.40G>T (CAV3) NP_001225.1:p.Val14Phe
NM_033337.3:c.40G>T (CAV3) MANE Select NP_203123.1:p.Val14Phe