Canonical Allele Identifier: CA399582532

Gene: CAVIN1

Linked Data

• dbSNP Id: rs1221121013
• gnomAD v2: 17-40556791-G-C
• gnomAD v4: 17-42404773-G-C
• MyVariant Identifiers: chr17:g.40556791G>C (hg19) ; chr17:g.42404773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404773G>C , CM000679.2:g.42404773G>C	GRCh38
NC_000017.10:g.40556791G>C , CM000679.1:g.40556791G>C	GRCh37
NC_000017.9:g.37810317G>C	NCBI36
NG_015845.1:g.23548C>G
NG_015845.2:g.23548C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357037.6:c.1087C>G MANE Select	ENSP00000349541.4:p.Arg363Gly
ENST00000357037.5:c.1087C>G	ENSP00000349541.4:p.Arg363Gly
NM_012232.5:c.1087C>G	NP_036364.2:p.Arg363Gly
NM_012232.6:c.1087C>G MANE Select	NP_036364.2:p.Arg363Gly