Canonical Allele Identifier: CA10649265

Gene: CAVIN1

Linked Data

• ClinVar Variation Id: 323259
• ClinVar RCV Id: RCV000374775
• dbSNP Id: rs7210713
• gnomAD v2: 17-40555001-G-C
• gnomAD v3: 17-42402983-G-C
• gnomAD v4: 17-42402983-G-C
• MyVariant Identifiers: chr17:g.40555001G>C (hg19) ; chr17:g.42402983G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42402983G>C , CM000679.2:g.42402983G>C	GRCh38
NC_000017.10:g.40555001G>C , CM000679.1:g.40555001G>C	GRCh37
NC_000017.9:g.37808527G>C	NCBI36
NG_015845.1:g.25338C>G
NG_015845.2:g.25338C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357037.6:c.*1704C>G MANE Select	ENSP00000349541.4:n.*1704C>G
ENST00000357037.5:c.*1704C>G	ENSP00000349541.4:n.*1704C>G
NM_012232.5:c.*1704C>G	NP_036364.2:n.*1704C>G
NM_012232.6:c.*1704C>G MANE Select	NP_036364.2:n.*1704C>G