Canonical Allele Identifier: CA399582530
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404773-G-T
MyVariant Identifiers: chr17:g.40556791G>T (hg19) chr17:g.42404773G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404773G>T , CM000679.2:g.42404773G>T GRCh38
NC_000017.10:g.40556791G>T , CM000679.1:g.40556791G>T GRCh37
NC_000017.9:g.37810317G>T NCBI36
NG_015845.1:g.23548C>A
NG_015845.2:g.23548C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1087C>A MANE Select ENSP00000349541.4:p.Arg363Ser
ENST00000357037.5:c.1087C>A ENSP00000349541.4:p.Arg363Ser
NM_012232.5:c.1087C>A NP_036364.2:p.Arg363Ser
NM_012232.6:c.1087C>A MANE Select NP_036364.2:p.Arg363Ser
Search 100 bp 5'
Search 100 bp 3'