Canonical Allele Identifier: CA399582418
Gene: CAVIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40556769T>G (hg19) chr17:g.42404751T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404751T>G , CM000679.2:g.42404751T>G GRCh38
NC_000017.10:g.40556769T>G , CM000679.1:g.40556769T>G GRCh37
NC_000017.9:g.37810295T>G NCBI36
NG_015845.1:g.23570A>C
NG_015845.2:g.23570A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1109A>C MANE Select ENSP00000349541.4:p.His370Pro
ENST00000357037.5:c.1109A>C ENSP00000349541.4:p.His370Pro
NM_012232.5:c.1109A>C NP_036364.2:p.His370Pro
NM_012232.6:c.1109A>C MANE Select NP_036364.2:p.His370Pro
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