Canonical Allele Identifier: CA432356446

Linked Data

gnomAD v4: 3-8733987-C-A
MyVariant Identifiers: chr3:g.8775673C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733987C>A , CM000665.2:g.8733987C>A GRCh38
NC_000003.11:g.8775673C>A , CM000665.1:g.8775673C>A GRCh37
NC_000003.10:g.8750673C>A NCBI36
NG_008797.2:g.5178C>A , LRG_329:g.5178C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.111C>A (CAV3) MANE Select ENSP00000341940.2:p.Val37=
ENST00000343849.2:c.111C>A (CAV3) ENSP00000341940.2:p.Val37=
ENST00000397368.2:c.111C>A (CAV3) ENSP00000380525.2:p.Val37=
ENST00000435138.5:c.64+8472G>T (SSUH2) ENSP00000412333.1:n.64+8472G>T
ENST00000472766.1:n.152C>A (CAV3)
ENST00000478513.1:n.335+8472G>T (SSUH2)
NM_001234.4:c.111C>A (CAV3) NP_001225.1:p.Val37=
NM_033337.2:c.111C>A , LRG_329t1:c.111C>A (CAV3) NP_203123.1:p.Val37=
XR_940435.1:n.330+8472G>T (SSUH2)
XM_017006530.1:c.-283+8472G>T (SSUH2) XP_016862019.1:n.-283+8472G>T
NM_001234.5:c.111C>A (CAV3) NP_001225.1:p.Val37=
NM_033337.3:c.111C>A (CAV3) MANE Select NP_203123.1:p.Val37=