Canonical Allele Identifier: CA165439041

Gene: CAV1

Linked Data

• dbSNP Id: rs1049334
• gnomAD v3: 7-116560326-G-T
• gnomAD v4: 7-116560326-G-T
• MyVariant Identifiers: chr7:g.116200380G>T (hg19) ; chr7:g.116560326G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116560326G>T , CM000669.2:g.116560326G>T	GRCh38
NC_000007.13:g.116200380G>T , CM000669.1:g.116200380G>T	GRCh37
NC_000007.12:g.115987616G>T	NCBI36
NG_012051.1:g.40542G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341049.7:c.*1039G>T MANE Select	ENSP00000339191.2:n.*1039G>T
ENST00000405348.6:c.*1039G>T	ENSP00000384348.1:n.*1039G>T
ENST00000341049.6:c.*1039G>T	ENSP00000339191.2:n.*1039G>T
ENST00000393467.1:c.*1039G>T	ENSP00000377110.1:n.*1039G>T
ENST00000405348.5:c.*1039G>T	ENSP00000384348.1:n.*1039G>T
ENST00000614113.4:c.*1039G>T	ENSP00000479447.1:n.*1039G>T
NM_001172895.1:c.*1039G>T	NP_001166366.1:n.*1039G>T
NM_001172896.1:c.*1039G>T	NP_001166367.1:n.*1039G>T
NM_001172897.1:c.*1039G>T	NP_001166368.1:n.*1039G>T
NM_001753.4:c.*1039G>T	NP_001744.2:n.*1039G>T
NM_001753.5:c.*1039G>T MANE Select	NP_001744.2:n.*1039G>T
NM_001172896.2:c.*1039G>T	NP_001166367.1:n.*1039G>T
NM_001172897.2:c.*1039G>T	NP_001166368.1:n.*1039G>T