Canonical Allele Identifier: CA8575760
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs774719095

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404830C>T , CM000679.2:g.42404830C>T GRCh38
NC_000017.10:g.40556848C>T , CM000679.1:g.40556848C>T GRCh37
NC_000017.9:g.37810374C>T NCBI36
NG_015845.1:g.23491G>A
NG_015845.2:g.23491G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1030G>A MANE Select ENSP00000349541.4:p.Val344Met
ENST00000357037.5:c.1030G>A ENSP00000349541.4:p.Val344Met
NM_012232.5:c.1030G>A NP_036364.2:p.Val344Met
NM_012232.6:c.1030G>A MANE Select NP_036364.2:p.Val344Met