Canonical Allele Identifier: CA5852300

Gene: CAVIN3

Linked Data

• dbSNP Id: rs139017576
• ExAC: 11:6340963 C / T
• gnomAD v2: 11-6340963-C-T
• gnomAD v3: 11-6319733-C-T
• gnomAD v4: 11-6319733-C-T
• MyVariant Identifiers: chr11:g.6340963C>T (hg19) ; chr11:g.6319733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319733C>T , CM000673.2:g.6319733C>T	GRCh38
NC_000011.9:g.6340963C>T , CM000673.1:g.6340963C>T	GRCh37
NC_000011.8:g.6297539C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303927.4:c.385-169G>A MANE Select	ENSP00000307292.3:n.385-169G>A
ENST00000303927.3:c.385-169G>A	ENSP00000307292.3:n.385-169G>A
ENST00000524852.1:n.64-62G>A
ENST00000530979.1:c.404G>A	ENSP00000432047.1:p.Arg135His
ENST00000532354.1:n.330G>A
NM_145040.2:c.385-169G>A	NP_659477.2:n.385-169G>A
XR_242848.3:n.136+36C>T
XR_242849.3:n.136+36C>T
XR_428874.2:n.136+36C>T
XR_930992.1:n.136+36C>T
XR_930994.1:n.136+36C>T
XR_930995.1:n.136+36C>T
XR_930996.1:n.136+36C>T
XR_930997.1:n.720+1513C>T
XR_930998.1:n.136+36C>T
XR_930999.1:n.136+36C>T
XR_001748105.2:n.155+36C>T
XR_001748106.1:n.308+36C>T
XR_001748108.2:n.155+36C>T
XR_001748109.2:n.164+36C>T
XR_242848.4:n.557+36C>T
XR_930992.3:n.155+36C>T
XR_930994.3:n.155+36C>T
XR_930995.3:n.155+36C>T
XR_930998.3:n.155+36C>T
NM_145040.3:c.385-169G>A MANE Select	NP_659477.2:n.385-169G>A