Canonical Allele Identifier: CA577425114

Gene: CAV1

Linked Data

• dbSNP Id: rs1309432009
• gnomAD v2: 7-116165374-C-T
• MyVariant Identifiers: chr7:g.116165374C>T (hg19) ; chr7:g.116525320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116525320C>T , CM000669.2:g.116525320C>T	GRCh38
NC_000007.13:g.116165374C>T , CM000669.1:g.116165374C>T	GRCh37
NC_000007.12:g.115952610C>T	NCBI36
NG_012051.1:g.5536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341049.7:c.30+228C>T MANE Select	ENSP00000339191.2:n.30+228C>T
ENST00000614113.5:c.30+228C>T	ENSP00000479447.2:n.30+228C>T
ENST00000341049.6:c.30+228C>T	ENSP00000339191.2:n.30+228C>T
ENST00000393470.1:c.30+228C>T	ENSP00000377113.1:n.30+228C>T
ENST00000451122.5:c.258C>T	ENSP00000409541.1:p.Ser86=
ENST00000489856.1:n.81+228C>T
ENST00000614113.4:c.-549C>T	ENSP00000479447.1:n.-549C>T
NM_001172895.1:c.-549C>T	NP_001166366.1:n.-549C>T
NM_001753.4:c.30+228C>T	NP_001744.2:n.30+228C>T
NM_001753.5:c.30+228C>T MANE Select	NP_001744.2:n.30+228C>T