Canonical Allele Identifier: CA399582324
Gene: CAVIN1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.40556752T>C (hg19) chr17:g.42404734T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404734T>C , CM000679.2:g.42404734T>C GRCh38
NC_000017.10:g.40556752T>C , CM000679.1:g.40556752T>C GRCh37
NC_000017.9:g.37810278T>C NCBI36
NG_015845.1:g.23587A>G
NG_015845.2:g.23587A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1126A>G MANE Select ENSP00000349541.4:p.Thr376Ala
ENST00000357037.5:c.1126A>G ENSP00000349541.4:p.Thr376Ala
NM_012232.5:c.1126A>G NP_036364.2:p.Thr376Ala
NM_012232.6:c.1126A>G MANE Select NP_036364.2:p.Thr376Ala
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