Canonical Allele Identifier: CA2637956391
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404652-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404652G>C , CM000679.2:g.42404652G>C GRCh38
NC_000017.10:g.40556670G>C , CM000679.1:g.40556670G>C GRCh37
NC_000017.9:g.37810196G>C NCBI36
NG_015845.1:g.23669C>G
NG_015845.2:g.23669C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*35C>G MANE Select ENSP00000349541.4:n.*35C>G
ENST00000357037.5:c.*35C>G ENSP00000349541.4:n.*35C>G
NM_012232.5:c.*35C>G NP_036364.2:n.*35C>G
NM_012232.6:c.*35C>G MANE Select NP_036364.2:n.*35C>G
Search 100 bp 5'
Search 100 bp 3'