Canonical Allele Identifier: CA399582694
Gene: CAVIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40556836C>T (hg19) chr17:g.42404818C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404818C>T , CM000679.2:g.42404818C>T GRCh38
NC_000017.10:g.40556836C>T , CM000679.1:g.40556836C>T GRCh37
NC_000017.9:g.37810362C>T NCBI36
NG_015845.1:g.23503G>A
NG_015845.2:g.23503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1042G>A MANE Select ENSP00000349541.4:p.Asp348Asn
ENST00000357037.5:c.1042G>A ENSP00000349541.4:p.Asp348Asn
NM_012232.5:c.1042G>A NP_036364.2:p.Asp348Asn
NM_012232.6:c.1042G>A MANE Select NP_036364.2:p.Asp348Asn
Search 100 bp 5'
Search 100 bp 3'