Canonical Allele Identifier: CA10649270

Gene: CAVIN1

Linked Data

• ClinVar Variation Id: 323275
• ClinVar RCV Id: RCV000316293 ; RCV001653578
• dbSNP Id: rs7207285
• gnomAD v2: 17-40556515-T-C
• gnomAD v3: 17-42404497-T-C
• gnomAD v4: 17-42404497-T-C
• MyVariant Identifiers: chr17:g.40556515T>C (hg19) ; chr17:g.42404497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404497T>C , CM000679.2:g.42404497T>C	GRCh38
NC_000017.10:g.40556515T>C , CM000679.1:g.40556515T>C	GRCh37
NC_000017.9:g.37810041T>C	NCBI36
NG_015845.1:g.23824A>G
NG_015845.2:g.23824A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357037.6:c.*190A>G MANE Select	ENSP00000349541.4:n.*190A>G
ENST00000357037.5:c.*190A>G	ENSP00000349541.4:n.*190A>G
NM_012232.5:c.*190A>G	NP_036364.2:n.*190A>G
NM_012232.6:c.*190A>G MANE Select	NP_036364.2:n.*190A>G