Canonical Allele Identifier: CA2684555684

Gene: CAV1

Linked Data

• gnomAD v4: 7-116525307-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525307G>C , CM000669.2:g.116525307G>C	GRCh38
NC_000007.13:g.116165361G>C , CM000669.1:g.116165361G>C	GRCh37
NC_000007.12:g.115952597G>C	NCBI36
NG_012051.1:g.5523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.30+215G>C MANE Select	ENSP00000339191.2:n.30+215G>C
ENST00000614113.5:c.30+215G>C	ENSP00000479447.2:n.30+215G>C
ENST00000341049.6:c.30+215G>C	ENSP00000339191.2:n.30+215G>C
ENST00000393470.1:c.30+215G>C	ENSP00000377113.1:n.30+215G>C
ENST00000451122.5:c.245G>C	ENSP00000409541.1:p.Arg82Thr
ENST00000489856.1:n.81+215G>C
ENST00000614113.4:c.-562G>C	ENSP00000479447.1:n.-562G>C
NM_001172895.1:c.-562G>C	NP_001166366.1:n.-562G>C
NM_001753.4:c.30+215G>C	NP_001744.2:n.30+215G>C
NM_001753.5:c.30+215G>C MANE Select	NP_001744.2:n.30+215G>C