Canonical Allele Identifier: CA2637956035
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404402-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404402A>G , CM000679.2:g.42404402A>G GRCh38
NC_000017.10:g.40556420A>G , CM000679.1:g.40556420A>G GRCh37
NC_000017.9:g.37809946A>G NCBI36
NG_015845.1:g.23919T>C
NG_015845.2:g.23919T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*285T>C MANE Select ENSP00000349541.4:n.*285T>C
ENST00000357037.5:c.*285T>C ENSP00000349541.4:n.*285T>C
NM_012232.5:c.*285T>C NP_036364.2:n.*285T>C
NM_012232.6:c.*285T>C MANE Select NP_036364.2:n.*285T>C
Search 100 bp 5'
Search 100 bp 3'