Canonical Allele Identifier: CA399582424
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404752-G-A
MyVariant Identifiers: chr17:g.40556770G>A (hg19) chr17:g.42404752G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404752G>A , CM000679.2:g.42404752G>A GRCh38
NC_000017.10:g.40556770G>A , CM000679.1:g.40556770G>A GRCh37
NC_000017.9:g.37810296G>A NCBI36
NG_015845.1:g.23569C>T
NG_015845.2:g.23569C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1108C>T MANE Select ENSP00000349541.4:p.His370Tyr
ENST00000357037.5:c.1108C>T ENSP00000349541.4:p.His370Tyr
NM_012232.5:c.1108C>T NP_036364.2:p.His370Tyr
NM_012232.6:c.1108C>T MANE Select NP_036364.2:p.His370Tyr
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