Canonical Allele Identifier: CA2637956037
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404404-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404404C>A , CM000679.2:g.42404404C>A GRCh38
NC_000017.10:g.40556422C>A , CM000679.1:g.40556422C>A GRCh37
NC_000017.9:g.37809948C>A NCBI36
NG_015845.1:g.23917G>T
NG_015845.2:g.23917G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*283G>T MANE Select ENSP00000349541.4:n.*283G>T
ENST00000357037.5:c.*283G>T ENSP00000349541.4:n.*283G>T
NM_012232.5:c.*283G>T NP_036364.2:n.*283G>T
NM_012232.6:c.*283G>T MANE Select NP_036364.2:n.*283G>T
Search 100 bp 5'
Search 100 bp 3'