Canonical Allele Identifier: CA500215486
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1177797931
MyVariant Identifiers: chr17:g.40556789G>A (hg19) chr17:g.42404771G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404771G>A , CM000679.2:g.42404771G>A GRCh38
NC_000017.10:g.40556789G>A , CM000679.1:g.40556789G>A GRCh37
NC_000017.9:g.37810315G>A NCBI36
NG_015845.1:g.23550C>T
NG_015845.2:g.23550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1089C>T MANE Select ENSP00000349541.4:p.Arg363=
ENST00000357037.5:c.1089C>T ENSP00000349541.4:p.Arg363=
NM_012232.5:c.1089C>T NP_036364.2:p.Arg363=
NM_012232.6:c.1089C>T MANE Select NP_036364.2:p.Arg363=
Search 100 bp 5'
Search 100 bp 3'