Canonical Allele Identifier: CA2637956358
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404627-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404627G>A , CM000679.2:g.42404627G>A GRCh38
NC_000017.10:g.40556645G>A , CM000679.1:g.40556645G>A GRCh37
NC_000017.9:g.37810171G>A NCBI36
NG_015845.1:g.23694C>T
NG_015845.2:g.23694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*60C>T MANE Select ENSP00000349541.4:n.*60C>T
ENST00000357037.5:c.*60C>T ENSP00000349541.4:n.*60C>T
NM_012232.5:c.*60C>T NP_036364.2:n.*60C>T
NM_012232.6:c.*60C>T MANE Select NP_036364.2:n.*60C>T
Search 100 bp 5'
Search 100 bp 3'