Canonical Allele Identifier: CA399582523
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404772-C-A
MyVariant Identifiers: chr17:g.40556790C>A (hg19) chr17:g.42404772C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404772C>A , CM000679.2:g.42404772C>A GRCh38
NC_000017.10:g.40556790C>A , CM000679.1:g.40556790C>A GRCh37
NC_000017.9:g.37810316C>A NCBI36
NG_015845.1:g.23549G>T
NG_015845.2:g.23549G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1088G>T MANE Select ENSP00000349541.4:p.Arg363Leu
ENST00000357037.5:c.1088G>T ENSP00000349541.4:p.Arg363Leu
NM_012232.5:c.1088G>T NP_036364.2:p.Arg363Leu
NM_012232.6:c.1088G>T MANE Select NP_036364.2:p.Arg363Leu
Search 100 bp 5'
Search 100 bp 3'