Canonical Allele Identifier: CA577425098

Gene: CAV1

Linked Data

• dbSNP Id: rs1173233094
• gnomAD v2: 7-116165263-C-G
• gnomAD v4: 7-116525209-C-G
• MyVariant Identifiers: chr7:g.116165263C>G (hg19) ; chr7:g.116525209C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525209C>G , CM000669.2:g.116525209C>G	GRCh38
NC_000007.13:g.116165263C>G , CM000669.1:g.116165263C>G	GRCh37
NC_000007.12:g.115952499C>G	NCBI36
NG_012051.1:g.5425C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.30+117C>G MANE Select	ENSP00000339191.2:n.30+117C>G
ENST00000614113.5:c.30+117C>G	ENSP00000479447.2:n.30+117C>G
ENST00000341049.6:c.30+117C>G	ENSP00000339191.2:n.30+117C>G
ENST00000393470.1:c.30+117C>G	ENSP00000377113.1:n.30+117C>G
ENST00000451122.5:c.147C>G	ENSP00000409541.1:p.Ser49Arg
ENST00000489856.1:n.81+117C>G
ENST00000614113.4:c.-660C>G	ENSP00000479447.1:n.-660C>G
NM_001172895.1:c.-660C>G	NP_001166366.1:n.-660C>G
NM_001753.4:c.30+117C>G	NP_001744.2:n.30+117C>G
NM_001753.5:c.30+117C>G MANE Select	NP_001744.2:n.30+117C>G